nsv4700572
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:esv3839454 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 238 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 238 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4700572 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,207,623 | 21,207,623 |
| nsv4700572 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 115,748 | 115,748 |
| nsv4700572 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 21,207,732 | 21,207,732 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16227847 | line1 insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16227847 | Remapped | Perfect | NW_009646199.1:g.1 15748_115749ins? | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 115,748 | 115,748 |
| nssv16227847 | Remapped | Perfect | NC_000005.10:g.212 07623_21207624ins? | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,207,623 | 21,207,623 |
| nssv16227847 | Submitted genomic | NC_000005.9:g.2120 7732_21207733ins? | GRCh37 (hg19) | NC_000005.9 | Chr5 | 21,207,732 | 21,207,732 |
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) |
|---|---|---|---|
| nssv16227847 | 0.309 | 1547 | 5008 |