nsv6131509
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:51
- Description:nsv5538009 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: 118 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6131509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000017.11 | Chr17 | 38,472,379 | 38,472,429 |
| nsv6131509 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,507,686 | 2,507,736 |
| nsv6131509 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,628,620 | 36,628,670 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17965457 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17965457 | Remapped | Perfect | NT_187614.1:g.2507 686_2507736ins? | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,507,686 | 2,507,736 |
| nssv17965457 | Remapped | Perfect | NC_000017.11:g.384 72379_38472429ins? | GRCh38.p12 | Second Pass | NC_000017.11 | Chr17 | 38,472,379 | 38,472,429 |
| nssv17965457 | Submitted genomic | NC_000017.10:g.366 28620_36628670ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,628,620 | 36,628,670 |
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) |
|---|---|---|---|
| nssv17965457 | 0.021 | 132 | 6404 |