nsv4650557
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,700
- Description:esv3887222 from 1000 Genomes Consortium Phase 3 Integrated SV. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 1570 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1570 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4650557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 25,429,410 | 25,448,109 |
| nsv4650557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 25,825,377 | 25,844,076 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16193733 | copy number loss | Curated | Curated |
| nssv16206090 | copy number gain | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16193733 | Remapped | Perfect | NC_000022.11:g.254 29410_25448109del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,429,410 | 25,448,109 |
| nssv16206090 | Remapped | Perfect | NC_000022.11:g.254 29410_25448109dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,429,410 | 25,448,109 |
| nssv16193733 | Submitted genomic | NC_000022.10:g.258 25377_25844076del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,825,377 | 25,844,076 | ||
| nssv16206090 | Submitted genomic | NC_000022.10:g.258 25377_25844076dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,825,377 | 25,844,076 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16193733 | 0.014 | 70 | 5008 |
| nssv16206090 | 0.028 | 142 | 5008 |