nsv6306035
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,327
- Description:nsv6145802 from Byrska-Bishop et. al 2021. 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: 190 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6306035 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,874,874 | 39,880,200 |
| nsv6306035 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 134,750 | 140,076 |
| nsv6306035 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 40,365,514 | 40,370,840 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17967228 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17967228 | Remapped | Perfect | NW_009646206.1:g.1 34750_140076dup | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 134,750 | 140,076 |
| nssv17967228 | Remapped | Perfect | NC_000019.10:g.398 74874_39880200dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,874,874 | 39,880,200 |
| nssv17967228 | Submitted genomic | NC_000019.9:g.4036 5514_40370840dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,365,514 | 40,370,840 |
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) |
|---|---|---|---|
| nssv17967228 | 0.526 | 2932 | 5574 |