nsv5388429
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:249
- Description:nsv4790216 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: 1061 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 611 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1061 SVs from 73 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5388429 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,003,501 | 242,003,749 |
| nsv5388429 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 42,196 | 42,444 |
| nsv5388429 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 42,196 | 42,444 |
| nsv5388429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,945,652 | 242,945,900 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16867605 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867605 | Remapped | Perfect | NT_187523.1:g.4219 6_42444del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 42,196 | 42,444 |
| nssv16867605 | Remapped | Perfect | NT_187647.1:g.4219 6_42444del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 42,196 | 42,444 |
| nssv16867605 | Remapped | Perfect | NC_000002.12:g.242 003501_242003749de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,003,501 | 242,003,749 |
| nssv16867605 | Submitted genomic | NC_000002.11:g.242 945652_242945900de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,945,652 | 242,945,900 |
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) |
|---|---|---|---|
| nssv16867605 | 0.341 | 5737 | 16818 |