nsv5389762
- 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:187
- Description:nsv4984128 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: 259 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,641,618 | 1,641,804 |
| nsv5389762 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 115,984 | 116,169 |
| nsv5389762 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 123,855 | 124,041 |
| nsv5389762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,662,848 | 1,663,034 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16888785 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16888785 | Remapped | Good | NT_187657.1:g.1159 84_116169dup | GRCh38.p12 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 115,984 | 116,169 |
| nssv16888785 | Remapped | Perfect | NT_187584.1:g.1238 55_124041dup | GRCh38.p12 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 123,855 | 124,041 |
| nssv16888785 | Remapped | Perfect | NC_000011.10:g.164 1618_1641804dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,641,618 | 1,641,804 |
| nssv16888785 | Submitted genomic | NC_000011.9:g.1662 848_1663034dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,662,848 | 1,663,034 |
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) |
|---|---|---|---|
| nssv16888785 | 0.014 | 406 | 29244 |