nsv4653289
- 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:50,570
- Description:esv3828809 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: 1009 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 1009 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4653289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,910,755 | 241,960,561 |
| nsv4653289 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 122,853 | 173,422 |
| nsv4653289 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,852,906 | 242,902,712 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16188841 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16188841 | Remapped | Good | NT_187527.1:g.1228 53_173422del | GRCh38.p12 | Second Pass | NT_187527.1 | Chr2|NT_18 7527.1 | 122,853 | 173,422 |
| nssv16188841 | Remapped | Perfect | NC_000002.12:g.241 910755_241960561de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,910,755 | 241,960,561 |
| nssv16188841 | Submitted genomic | NC_000002.11:g.242 852906_242902712de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,852,906 | 242,902,712 |
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) |
|---|---|---|---|
| nssv16188841 | 0.012 | 58 | 5008 |