nsv519251
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:234,772
- 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: 1843 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1843 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 9 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 |
---|---|---|---|---|---|---|---|---|---|
nsv519251 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,173,752 | 111,408,523 |
nsv519251 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 110,813,808 | 111,048,579 |
nsv519251 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 110,407,759 | 110,642,530 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Zygosity |
---|---|---|---|---|
nssv696743 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv696743 | Remapped | Perfect | NC_000007.14:g.(?_ 111173752)_(111408 523_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,173,752 | 111,408,523 |
nssv696743 | Remapped | Perfect | NC_000007.13:g.(?_ 110813808)_(111048 579_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 110,813,808 | 111,048,579 |
nssv696743 | Submitted genomic | NC_000007.11:g.(?_ 110407759)_(110642 530_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 110,407,759 | 110,642,530 |