nsv870293
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:70,115
- Publication(s):Tüttelmann et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1458 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1463 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 833 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nsv870293 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nsv870293 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1496008 | copy number loss | CONTROL_52 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1496647 | copy number loss | CONTROL_61 | Oligo aCGH | Probe signal intensity | 9 |
| nssv1496882 | copy number loss | CONTROL_69 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1496935 | copy number loss | CONTROL_90 | Oligo aCGH | Probe signal intensity | 17 |
| nssv1497169 | copy number loss | CONTROL_89 | Oligo aCGH | Probe signal intensity | 17 |
| nssv1497902 | copy number loss | CONTROL_42 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1498067 | copy number loss | OAT_60 | Oligo aCGH | Probe signal intensity | 12 |
| nssv1498704 | copy number loss | SCOS_13 | Oligo aCGH | Probe signal intensity | 38 |
| nssv1496058 | copy number loss | OAT_72 | Oligo aCGH | Probe signal intensity | 7 |
| nssv1497901 | copy number loss | SCOS_05 | Oligo aCGH | Probe signal intensity | 19 |
| nssv1498262 | copy number loss | CONTROL_48 | Oligo aCGH | Probe signal intensity | 19 |
| nssv1498636 | copy number loss | SCOS_35 | Oligo aCGH | Probe signal intensity | 18 |
| nssv1495843 | copy number loss | OAT_58 | Oligo aCGH | Probe signal intensity | 9 |
| nssv1496355 | copy number loss | CONTROL_92 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1496660 | copy number loss | OAT_66 | Oligo aCGH | Probe signal intensity | 13 |
| nssv1497031 | copy number loss | OAT_43 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1497416 | copy number loss | CONTROL_82 | Oligo aCGH | Probe signal intensity | 13 |
| nssv1497655 | copy number loss | CONTROL_39 | Oligo aCGH | Probe signal intensity | 10 |
| nssv1497837 | copy number loss | OAT_79 | Oligo aCGH | Probe signal intensity | 11 |
| nssv1498451 | copy number loss | CONTROL_47 | Oligo aCGH | Probe signal intensity | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1496008 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564598) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,598 | 248,632,164 | 248,634,801 |
| nssv1496647 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564598) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,598 | 248,632,164 | 248,634,801 |
| nssv1496882 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564598) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,598 | 248,632,164 | 248,634,801 |
| nssv1496935 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564598) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,598 | 248,632,164 | 248,634,801 |
| nssv1497169 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564598) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,598 | 248,632,164 | 248,634,801 |
| nssv1497902 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564598) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,598 | 248,632,164 | 248,634,801 |
| nssv1498067 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564598) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,598 | 248,632,164 | 248,634,801 |
| nssv1498704 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564628) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,628 | 248,632,164 | 248,634,801 |
| nssv1496058 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564628) _(248634860_248645 092)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,628 | 248,634,860 | 248,645,092 |
| nssv1497901 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564628) _(248634860_248645 092)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,628 | 248,634,860 | 248,645,092 |
| nssv1498262 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564628) _(248634860_248645 092)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,628 | 248,634,860 | 248,645,092 |
| nssv1498636 | Remapped | Perfect | NC_000001.11:g.(24 8539153_248564628) _(248634860_248645 092)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,539,153 | 248,564,628 | 248,634,860 | 248,645,092 |
| nssv1495843 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1496355 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1496660 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1497031 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1497416 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1497655 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1497837 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1498451 | Remapped | Perfect | NC_000001.11:g.(24 8564687_248565299) _(248632164_248634 801)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,564,687 | 248,565,299 | 248,632,164 | 248,634,801 |
| nssv1496008 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727899) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,899 | 248,795,465 | 248,798,102 |
| nssv1496647 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727899) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,899 | 248,795,465 | 248,798,102 |
| nssv1496882 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727899) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,899 | 248,795,465 | 248,798,102 |
| nssv1496935 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727899) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,899 | 248,795,465 | 248,798,102 |
| nssv1497169 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727899) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,899 | 248,795,465 | 248,798,102 |
| nssv1497902 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727899) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,899 | 248,795,465 | 248,798,102 |
| nssv1498067 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727899) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,899 | 248,795,465 | 248,798,102 |
| nssv1498704 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727929) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,929 | 248,795,465 | 248,798,102 |
| nssv1496058 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727929) _(248798161_248808 393)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,929 | 248,798,161 | 248,808,393 |
| nssv1497901 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727929) _(248798161_248808 393)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,929 | 248,798,161 | 248,808,393 |
| nssv1498262 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727929) _(248798161_248808 393)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,929 | 248,798,161 | 248,808,393 |
| nssv1498636 | Remapped | Perfect | NC_000001.10:g.(24 8702454_248727929) _(248798161_248808 393)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,702,454 | 248,727,929 | 248,798,161 | 248,808,393 |
| nssv1495843 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1496355 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1496660 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1497031 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1497416 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1497655 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1497837 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1498451 | Remapped | Perfect | NC_000001.10:g.(24 8727988_248728600) _(248795465_248798 102)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,727,988 | 248,728,600 | 248,795,465 | 248,798,102 |
| nssv1496008 | Submitted genomic | NC_000001.9:g.(246 769077_246794522)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,522 | 246,862,088 | 246,864,725 | ||
| nssv1496647 | Submitted genomic | NC_000001.9:g.(246 769077_246794522)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,522 | 246,862,088 | 246,864,725 | ||
| nssv1496882 | Submitted genomic | NC_000001.9:g.(246 769077_246794522)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,522 | 246,862,088 | 246,864,725 | ||
| nssv1496935 | Submitted genomic | NC_000001.9:g.(246 769077_246794522)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,522 | 246,862,088 | 246,864,725 | ||
| nssv1497169 | Submitted genomic | NC_000001.9:g.(246 769077_246794522)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,522 | 246,862,088 | 246,864,725 | ||
| nssv1497902 | Submitted genomic | NC_000001.9:g.(246 769077_246794522)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,522 | 246,862,088 | 246,864,725 | ||
| nssv1498067 | Submitted genomic | NC_000001.9:g.(246 769077_246794522)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,522 | 246,862,088 | 246,864,725 | ||
| nssv1498704 | Submitted genomic | NC_000001.9:g.(246 769077_246794552)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,552 | 246,862,088 | 246,864,725 | ||
| nssv1496058 | Submitted genomic | NC_000001.9:g.(246 769077_246794552)_ (246864784_2468750 16)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,552 | 246,864,784 | 246,875,016 | ||
| nssv1497901 | Submitted genomic | NC_000001.9:g.(246 769077_246794552)_ (246864784_2468750 16)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,552 | 246,864,784 | 246,875,016 | ||
| nssv1498262 | Submitted genomic | NC_000001.9:g.(246 769077_246794552)_ (246864784_2468750 16)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,552 | 246,864,784 | 246,875,016 | ||
| nssv1498636 | Submitted genomic | NC_000001.9:g.(246 769077_246794552)_ (246864784_2468750 16)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,769,077 | 246,794,552 | 246,864,784 | 246,875,016 | ||
| nssv1495843 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 | ||
| nssv1496355 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 | ||
| nssv1496660 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 | ||
| nssv1497031 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 | ||
| nssv1497416 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 | ||
| nssv1497655 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 | ||
| nssv1497837 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 | ||
| nssv1498451 | Submitted genomic | NC_000001.9:g.(246 794611_246795223)_ (246862088_2468647 25)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,794,611 | 246,795,223 | 246,862,088 | 246,864,725 |