nsv4718556
- 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:nsv4551375 from gnomAD Structural Variants and nsv4684933 from Lee et. al 2020. 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: 159 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 159 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4718556 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 6,293,833 | 6,293,833 |
| nsv4718556 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 6,343,834 | 6,343,834 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16220639 | insertion | Curated | Curated |
| nssv16252930 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16220639 | Remapped | Perfect | NC_000016.10:g.629 3833_6293834ins? | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 6,293,833 | 6,293,833 |
| nssv16252930 | Remapped | Perfect | NC_000016.10:g.629 3833_6293834ins? | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 6,293,833 | 6,293,833 |
| nssv16220639 | Submitted genomic | NC_000016.9:g.6343 834_6343835ins? | GRCh37 (hg19) | NC_000016.9 | Chr16 | 6,343,834 | 6,343,834 | ||
| nssv16252930 | Submitted genomic | NC_000016.9:g.6343 834_6343835ins? | GRCh37 (hg19) | NC_000016.9 | Chr16 | 6,343,834 | 6,343,834 |
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) |
|---|---|---|---|
| nssv16220639 | 0.141 | 3054 | 21694 |
| nssv16252930 | 0.266 | 868 | 3268 |