nsv517201
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,014
- Publication(s):Shaikh et al. 2009
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: 510 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 510 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv517201 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 131,415,845 | 131,460,858 |
| nsv517201 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 131,900,390 | 131,945,403 |
| nsv517201 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 130,425,270 | 130,470,283 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv655750 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv667140 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv651929 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv653996 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv657037 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv667245 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv679489 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv681798 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
| nssv701684 | copy number gain | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv655750 | Remapped | Perfect | NC_000012.12:g.(?_ 131415845)_(131460 858_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,415,845 | 131,460,858 |
| nssv667140 | Remapped | Perfect | NC_000012.12:g.(?_ 131415845)_(131460 858_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,415,845 | 131,460,858 |
| nssv651929 | Remapped | Perfect | NC_000012.12:g.(?_ 131420523)_(131420 574_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,420,523 | 131,420,574 |
| nssv653996 | Remapped | Perfect | NC_000012.12:g.(?_ 131420523)_(131420 574_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,420,523 | 131,420,574 |
| nssv657037 | Remapped | Perfect | NC_000012.12:g.(?_ 131420523)_(131420 574_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,420,523 | 131,420,574 |
| nssv667245 | Remapped | Perfect | NC_000012.12:g.(?_ 131420523)_(131420 574_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,420,523 | 131,420,574 |
| nssv679489 | Remapped | Perfect | NC_000012.12:g.(?_ 131420523)_(131420 574_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,420,523 | 131,420,574 |
| nssv681798 | Remapped | Perfect | NC_000012.12:g.(?_ 131420523)_(131420 574_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,420,523 | 131,420,574 |
| nssv701684 | Remapped | Perfect | NC_000012.12:g.(?_ 131424375)_(131427 517_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 131,424,375 | 131,427,517 |
| nssv655750 | Remapped | Perfect | NC_000012.11:g.(?_ 131900390)_(131945 403_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,900,390 | 131,945,403 |
| nssv667140 | Remapped | Perfect | NC_000012.11:g.(?_ 131900390)_(131945 403_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,900,390 | 131,945,403 |
| nssv651929 | Remapped | Perfect | NC_000012.11:g.(?_ 131905068)_(131905 119_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,905,068 | 131,905,119 |
| nssv653996 | Remapped | Perfect | NC_000012.11:g.(?_ 131905068)_(131905 119_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,905,068 | 131,905,119 |
| nssv657037 | Remapped | Perfect | NC_000012.11:g.(?_ 131905068)_(131905 119_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,905,068 | 131,905,119 |
| nssv667245 | Remapped | Perfect | NC_000012.11:g.(?_ 131905068)_(131905 119_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,905,068 | 131,905,119 |
| nssv679489 | Remapped | Perfect | NC_000012.11:g.(?_ 131905068)_(131905 119_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,905,068 | 131,905,119 |
| nssv681798 | Remapped | Perfect | NC_000012.11:g.(?_ 131905068)_(131905 119_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,905,068 | 131,905,119 |
| nssv701684 | Remapped | Perfect | NC_000012.11:g.(?_ 131908920)_(131912 062_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 131,908,920 | 131,912,062 |
| nssv655750 | Submitted genomic | NC_000012.9:g.(?_1 30425270)_(1304702 83_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,425,270 | 130,470,283 | ||
| nssv667140 | Submitted genomic | NC_000012.9:g.(?_1 30425270)_(1304702 83_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,425,270 | 130,470,283 | ||
| nssv651929 | Submitted genomic | NC_000012.9:g.(?_1 30429948)_(1304299 99_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,429,948 | 130,429,999 | ||
| nssv653996 | Submitted genomic | NC_000012.9:g.(?_1 30429948)_(1304299 99_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,429,948 | 130,429,999 | ||
| nssv657037 | Submitted genomic | NC_000012.9:g.(?_1 30429948)_(1304299 99_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,429,948 | 130,429,999 | ||
| nssv667245 | Submitted genomic | NC_000012.9:g.(?_1 30429948)_(1304299 99_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,429,948 | 130,429,999 | ||
| nssv679489 | Submitted genomic | NC_000012.9:g.(?_1 30429948)_(1304299 99_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,429,948 | 130,429,999 | ||
| nssv681798 | Submitted genomic | NC_000012.9:g.(?_1 30429948)_(1304299 99_?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,429,948 | 130,429,999 | ||
| nssv701684 | Submitted genomic | NC_000012.9:g.(?_1 30433800)_(1304369 42_?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 130,433,800 | 130,436,942 |