nsv5393510
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,247
- Description:nsv4878135 from Abel 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: 241 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393510 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 13,416,495 | 13,422,741 |
| nsv5393510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 13,416,607 | 13,422,853 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16870450 | line1 deletion | Curated | Curated |
| nssv16879968 | line1 deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16870450 | Remapped | Perfect | NC_000005.10:g.134 16495_13422741del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 13,416,495 | 13,422,741 |
| nssv16879968 | Remapped | Perfect | NC_000005.10:g.134 16495_13422741del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 13,416,495 | 13,422,741 |
| nssv16870450 | Submitted genomic | NC_000005.9:g.1341 6607_13422853del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 13,416,607 | 13,422,853 | ||
| nssv16879968 | Submitted genomic | NC_000005.9:g.1341 6607_13422853del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 13,416,607 | 13,422,853 |
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) |
|---|---|---|---|
| nssv16870450 | 0.251 | 4219 | 16834 |
| nssv16879968 | 0.234 | 6829 | 29246 |