nsv6633994
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,774
- 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: 743 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 793 SVs from 85 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6633994 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,154,916 |
nsv6633994 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 39,004,140 | 39,154,913 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18285850 | duplication | OSC2915 | SNP array | Probe signal intensity | nssv18286228, nssv18286576 |
nssv18288208 | deletion | OSC3236 | SNP array | Probe signal intensity | nssv18287971, nssv18288207 |
nssv18288718 | duplication | OSC3141 | SNP array | Probe signal intensity | nssv18288715, nssv18288716, nssv18288717 |
nssv18294056 | duplication | OSC4279 | SNP array | Probe signal intensity | nssv18294293, nssv18294949, nssv18294950 |
nssv18306519 | duplication | OSC0690 | SNP array | Probe signal intensity | 6 |
nssv18325686 | duplication | OSC1787 | SNP array | Probe signal intensity | nssv18325685 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18285850 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3915491 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,154,916 |
nssv18288208 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3915491 6_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,154,916 |
nssv18288718 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3915491 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,154,916 |
nssv18294056 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3915491 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,154,916 |
nssv18306519 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3915491 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,154,916 |
nssv18325686 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3915491 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,154,916 |
nssv18285850 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3915491 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,154,913 | ||
nssv18288208 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3915491 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,154,913 | ||
nssv18288718 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3915491 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,154,913 | ||
nssv18294056 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3915491 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,154,913 | ||
nssv18306519 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3915491 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,154,913 | ||
nssv18325686 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3915491 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,154,913 |