nsv933352
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:693
- Publication(s):Boone et al. 2013
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: 118 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv933352 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 66,549,630 | 66,550,322 |
| nsv933352 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 66,583,533 | 66,584,225 |
| nsv933352 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 65,141,034 | 65,141,726 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1613796 | deletion | 1003 | Oligo aCGH | Probe signal intensity | nssv1613133 |
| nssv1614394 | deletion | 1145 | Oligo aCGH | Probe signal intensity | nssv1613275, nssv1616202 |
| nssv1614506 | deletion | 1214 | Oligo aCGH | Probe signal intensity | nssv1616154, nssv1613140 |
| nssv1615202 | deletion | 1223 | Oligo aCGH | Probe signal intensity | nssv1615788, nssv1615531 |
| nssv1615616 | deletion | 1199 | Oligo aCGH | Probe signal intensity | nssv1615418, nssv1613539 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1613796 | Remapped | Perfect | NC_000016.10:g.(66 549314_66549630)_( 66550322_66565707) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 66,549,314 | 66,549,630 | 66,550,322 | 66,565,707 |
| nssv1614394 | Remapped | Perfect | NC_000016.10:g.(66 549314_66549630)_( 66550322_66565707) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 66,549,314 | 66,549,630 | 66,550,322 | 66,565,707 |
| nssv1614506 | Remapped | Perfect | NC_000016.10:g.(66 549314_66549630)_( 66550322_66565707) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 66,549,314 | 66,549,630 | 66,550,322 | 66,565,707 |
| nssv1615202 | Remapped | Perfect | NC_000016.10:g.(66 549314_66549630)_( 66550322_66565707) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 66,549,314 | 66,549,630 | 66,550,322 | 66,565,707 |
| nssv1615616 | Remapped | Perfect | NC_000016.10:g.(66 549314_66549630)_( 66550322_66565707) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 66,549,314 | 66,549,630 | 66,550,322 | 66,565,707 |
| nssv1613796 | Remapped | Perfect | NC_000016.9:g.(665 83217_66583533)_(6 6584225_66599610)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 66,583,217 | 66,583,533 | 66,584,225 | 66,599,610 |
| nssv1614394 | Remapped | Perfect | NC_000016.9:g.(665 83217_66583533)_(6 6584225_66599610)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 66,583,217 | 66,583,533 | 66,584,225 | 66,599,610 |
| nssv1614506 | Remapped | Perfect | NC_000016.9:g.(665 83217_66583533)_(6 6584225_66599610)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 66,583,217 | 66,583,533 | 66,584,225 | 66,599,610 |
| nssv1615202 | Remapped | Perfect | NC_000016.9:g.(665 83217_66583533)_(6 6584225_66599610)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 66,583,217 | 66,583,533 | 66,584,225 | 66,599,610 |
| nssv1615616 | Remapped | Perfect | NC_000016.9:g.(665 83217_66583533)_(6 6584225_66599610)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 66,583,217 | 66,583,533 | 66,584,225 | 66,599,610 |
| nssv1613796 | Submitted genomic | NC_000016.8:g.(651 40718_65141034)_(6 5141726_65157111)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 65,140,718 | 65,141,034 | 65,141,726 | 65,157,111 | ||
| nssv1614394 | Submitted genomic | NC_000016.8:g.(651 40718_65141034)_(6 5141726_65157111)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 65,140,718 | 65,141,034 | 65,141,726 | 65,157,111 | ||
| nssv1614506 | Submitted genomic | NC_000016.8:g.(651 40718_65141034)_(6 5141726_65157111)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 65,140,718 | 65,141,034 | 65,141,726 | 65,157,111 | ||
| nssv1615202 | Submitted genomic | NC_000016.8:g.(651 40718_65141034)_(6 5141726_65157111)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 65,140,718 | 65,141,034 | 65,141,726 | 65,157,111 | ||
| nssv1615616 | Submitted genomic | NC_000016.8:g.(651 40718_65141034)_(6 5141726_65157111)d el | NCBI36 (hg18) | NC_000016.8 | Chr16 | 65,140,718 | 65,141,034 | 65,141,726 | 65,157,111 |