nsv4392681
- 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:8,518
- 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: 258 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4392681 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 29,877,743 | 29,886,260 |
| nsv4392681 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 31,250,060 | 31,258,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15706614 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15706614 | Remapped | Perfect | NC_000021.9:g.2987 7743_29886260del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 29,877,743 | 29,886,260 |
| nssv15706614 | Submitted genomic | NC_000021.8:g.3125 0060_31258577del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 31,250,060 | 31,258,577 |
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) |
|---|---|---|---|
| nssv15706614 | 0.006 | 2 | 348 |