nsv471622
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:216,382
- Publication(s):Sharp et al. 2005
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: 511 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471622 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nsv471622 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nsv471622 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv550318 | copy number loss | GM10492A | BAC aCGH | Probe signal intensity | 47 |
| nssv550319 | copy number loss | GM10494A | BAC aCGH | Probe signal intensity | 55 |
| nssv550320 | copy number loss | GM10967 | BAC aCGH | Probe signal intensity | 58 |
| nssv550321 | copy number loss | GM10969 | BAC aCGH | Probe signal intensity | 51 |
| nssv550322 | copy number loss | GM10970 | BAC aCGH | Probe signal intensity | 55 |
| nssv550323 | copy number loss | GM10971 | BAC aCGH | Probe signal intensity | 56 |
| nssv550324 | copy number loss | GM10976 | BAC aCGH | Probe signal intensity | 56 |
| nssv550325 | copy number loss | GM10979 | BAC aCGH | Probe signal intensity | 65 |
| nssv550326 | copy number loss | GM11776 | BAC aCGH | Probe signal intensity | 31 |
| nssv550327 | copy number loss | GM15724 | BAC aCGH | Probe signal intensity | 41 |
| nssv550328 | copy number loss | GM15725 | BAC aCGH | Probe signal intensity | 50 |
| nssv550329 | copy number loss | GM15726 | BAC aCGH | Probe signal intensity | 41 |
| nssv550330 | copy number loss | GM15727 | BAC aCGH | Probe signal intensity | 44 |
| nssv550331 | copy number loss | GM15728 | BAC aCGH | Probe signal intensity | 33 |
| nssv550332 | copy number loss | GM15730 | BAC aCGH | Probe signal intensity | 49 |
| nssv550333 | copy number loss | GM15732 | BAC aCGH | Probe signal intensity | 56 |
| nssv550334 | copy number gain | GM15733 | BAC aCGH | Probe signal intensity | 51 |
| nssv550335 | copy number loss | GM16688 | BAC aCGH | Probe signal intensity | 44 |
| nssv550336 | copy number loss | GM17014A | BAC aCGH | Probe signal intensity | 61 |
| nssv550337 | copy number loss | GM17015 | BAC aCGH | Probe signal intensity | 60 |
| nssv550338 | copy number loss | GM17017 | BAC aCGH | Probe signal intensity | 57 |
| nssv550339 | copy number loss | GM17020A | BAC aCGH | Probe signal intensity | 43 |
| nssv550340 | copy number loss | GM17051 | BAC aCGH | Probe signal intensity | 54 |
| nssv550341 | copy number loss | GM17052 | BAC aCGH | Probe signal intensity | 50 |
| nssv550342 | copy number loss | GM17059A | BAC aCGH | Probe signal intensity | 44 |
| nssv550343 | copy number loss | P86GA | BAC aCGH | Probe signal intensity | 50 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv550318 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550319 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550320 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550321 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550322 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550323 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550324 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550325 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550326 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550327 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550328 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550329 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550330 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550331 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550332 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550333 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550334 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550335 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550336 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550337 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550338 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550339 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550340 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550341 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550342 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550343 | Remapped | Pass | NC_000001.11:g.(?_ 12155207)_(1237158 8_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,155,207 | 12,371,588 |
| nssv550318 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550319 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550320 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550321 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550322 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550323 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550324 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550325 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550326 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550327 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550328 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550329 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550330 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550331 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550332 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550333 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550334 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550335 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550336 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550337 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550338 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550339 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550340 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550341 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550342 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550343 | Remapped | Pass | NC_000001.10:g.(?_ 12215264)_(1243164 3_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 12,215,264 | 12,431,643 |
| nssv550318 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550319 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550320 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550321 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550322 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550323 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550324 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550325 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550326 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550327 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550328 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550329 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550330 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550331 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550332 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550333 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550334 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)dup | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550335 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550336 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550337 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550338 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550339 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550340 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550341 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550342 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 | ||
| nssv550343 | Submitted genomic | NC_000001.7:g.(?_1 1924810)_(12112733 _?)del | NCBI34 (hg16) | NC_000001.7 | Chr1 | 11,924,810 | 12,112,733 |