nsv6620856
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:119,270
- Publication(s):Zarrei et al. 2023
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: 387 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 387 SVs from 52 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6620856 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 88,717,833 | 88,837,102 |
nsv6620856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 90,477,590 | 90,596,859 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18285930 | duplication | OSC2970 | SNP array | Probe signal intensity | nssv18285931, nssv18286856 |
nssv18291712 | duplication | OSC3935 | SNP array | Probe signal intensity | 14 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18285930 | Remapped | Perfect | NC_000010.11:g.(?_ 88717833)_(8883710 2_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 88,717,833 | 88,837,102 |
nssv18291712 | Remapped | Perfect | NC_000010.11:g.(?_ 88717833)_(8883710 2_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 88,717,833 | 88,837,102 |
nssv18285930 | Submitted genomic | NC_000010.10:g.(?_ 90477590)_(9059685 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 90,477,590 | 90,596,859 | ||
nssv18291712 | Submitted genomic | NC_000010.10:g.(?_ 90477590)_(9059685 9_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 90,477,590 | 90,596,859 |