nsv4673003
- 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:43,479
- Description:nsv4618901 from DECIPHER Consensus CNVs. 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: 290 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 290 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 32,980,794 | 33,024,272 |
| nsv4673003 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 33,471,700 | 33,515,178 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16183388 | deletion | Curated | Curated |
| nssv16184535 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16183388 | Remapped | Perfect | NC_000019.10:g.(?_ 32980794)_(3302427 2_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 32,980,794 | 33,024,272 |
| nssv16184535 | Remapped | Perfect | NC_000019.10:g.(?_ 32980794)_(3302427 2_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 32,980,794 | 33,024,272 |
| nssv16183388 | Submitted genomic | NC_000019.9:g.(?_3 3471700)_(33515178 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 33,471,700 | 33,515,178 | ||
| nssv16184535 | Submitted genomic | NC_000019.9:g.(?_3 3471700)_(33515178 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 33,471,700 | 33,515,178 |
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) |
|---|---|---|---|
| nssv16183388 | 0.024 | 20 | 845 |
| nssv16184535 | 0.041 | 35 | 845 |