nsv4726811
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:nsv4685439 from Lee et. al 2020 and nsv5543432 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: 160 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4726811 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,635,572 | 235,635,572 |
| nsv4726811 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,798,872 | 235,798,872 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16253136 | insertion | Curated | Curated |
| nssv17658140 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253136 | Remapped | Perfect | NC_000001.11:g.235 635572_235635573in s? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,635,572 | 235,635,572 |
| nssv17658140 | Remapped | Perfect | NC_000001.11:g.235 635572_235635573in s? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,635,572 | 235,635,572 |
| nssv16253136 | Submitted genomic | NC_000001.10:g.235 798872_235798873in s? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,798,872 | 235,798,872 | ||
| nssv17658140 | Submitted genomic | NC_000001.10:g.235 798872_235798873in s? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,798,872 | 235,798,872 |
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) |
|---|---|---|---|
| nssv16253136 | 0.042 | 170 | 4008 |
| nssv17658140 | 0.026 | 164 | 6400 |