nsv4389089
- Organism: Homo sapiens
- Study:nstd171 (Wong et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,382
- Publication(s):Wong et al. 2019
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: 644 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 457 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4389089 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,290,010 | 72,298,391 |
| nsv4389089 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 2,277 | 10,658 |
| nsv4389089 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,755,693 | 72,764,074 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15707304 | deletion | Sequencing | Sequence alignment, Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15707304 | Remapped | Perfect | NW_018654707.1:g.2 277_10658del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 2,277 | 10,658 |
| nssv15707304 | Remapped | Perfect | NC_000001.11:g.722 90010_72298391del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,290,010 | 72,298,391 |
| nssv15707304 | Submitted genomic | NC_000001.10:g.727 55693_72764074del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,755,693 | 72,764,074 |
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) |
|---|---|---|---|
| nssv15707304 | 0.011 | 4 | 348 |