nsv4367890
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113,009
- Publication(s):Zarrei et al. 2019
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: 643 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 76 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4367890 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 29,631,089 | 29,744,097 |
nsv4367890 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 29,670,705 | 29,783,713 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15626852 | copy number gain | 1-0456-001 | SNP array | Genotyping | 23 |
nssv15626906 | copy number gain | 1-0456-004 | SNP array | Genotyping | 23 |
nssv15630661 | copy number gain | 1-0599-001 | SNP array | Genotyping | 18 |
nssv15651411 | copy number gain | 2-1430-005 | SNP array | Genotyping | 16 |
nssv15656087 | copy number gain | 3-0632-000 | SNP array | Genotyping | 28 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15626852 | Remapped | Perfect | NC_000007.14:g.(?_ 29631089)_(2974409 7_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 29,631,089 | 29,744,097 |
nssv15626906 | Remapped | Perfect | NC_000007.14:g.(?_ 29631089)_(2974409 7_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 29,631,089 | 29,744,097 |
nssv15630661 | Remapped | Perfect | NC_000007.14:g.(?_ 29631089)_(2974409 7_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 29,631,089 | 29,744,097 |
nssv15651411 | Remapped | Perfect | NC_000007.14:g.(?_ 29631089)_(2974409 7_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 29,631,089 | 29,744,097 |
nssv15656087 | Remapped | Perfect | NC_000007.14:g.(?_ 29631089)_(2974409 7_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 29,631,089 | 29,744,097 |
nssv15626852 | Submitted genomic | NC_000007.13:g.(?_ 29670705)_(2978371 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 29,670,705 | 29,783,713 | ||
nssv15626906 | Submitted genomic | NC_000007.13:g.(?_ 29670705)_(2978371 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 29,670,705 | 29,783,713 | ||
nssv15630661 | Submitted genomic | NC_000007.13:g.(?_ 29670705)_(2978371 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 29,670,705 | 29,783,713 | ||
nssv15651411 | Submitted genomic | NC_000007.13:g.(?_ 29670705)_(2978371 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 29,670,705 | 29,783,713 | ||
nssv15656087 | Submitted genomic | NC_000007.13:g.(?_ 29670705)_(2978371 3_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 29,670,705 | 29,783,713 |