nsv5392058
- 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:794
- Description:nsv4977808 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: 185 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392058 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 980,044 | 980,540 |
| nsv5392058 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 49,194 | 49,987 |
| nsv5392058 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 42,787 | 43,283 |
| nsv5392058 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 980,044 | 980,540 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16877312 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16877312 | Remapped | Pass | NT_187681.1:g.4919 4_49987del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 49,194 | 49,987 |
| nssv16877312 | Remapped | Perfect | NT_187656.1:g.4278 7_43283del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 42,787 | 43,283 |
| nssv16877312 | Remapped | Perfect | NC_000011.10:g.980 044_980540del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 980,044 | 980,540 |
| nssv16877312 | Submitted genomic | NC_000011.9:g.9800 44_980540del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 980,044 | 980,540 |
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) |
|---|---|---|---|
| nssv16877312 | 0.156 | 4372 | 28122 |