nsv4581049
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:140,316
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: 1553 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 628 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 632 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 1558 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4581049 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,346,193 | 248,486,276 |
| nsv4581049 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187646.1 | Chr1|NT_18 7646.1 | 1 | 136,694 |
| nsv4581049 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187518.1 | Chr1|NT_18 7518.1 | 1 | 140,316 |
| nsv4581049 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 248,509,495 | 248,649,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16110500 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16110500 | Remapped | Good | NT_187646.1:g.(?_1 )_(136694_?)dup | GRCh38.p12 | Second Pass | NT_187646.1 | Chr1|NT_18 7646.1 | 1 | 136,694 |
| nssv16110500 | Remapped | Good | NT_187518.1:g.(?_1 )_(140316_?)dup | GRCh38.p12 | Second Pass | NT_187518.1 | Chr1|NT_18 7518.1 | 1 | 140,316 |
| nssv16110500 | Remapped | Good | NC_000001.11:g.(?_ 248346193)_(248486 276_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,346,193 | 248,486,276 |
| nssv16110500 | Submitted genomic | NC_000001.10:g.(?_ 248509495)_(248649 577_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,509,495 | 248,649,577 |
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) |
|---|---|---|---|
| nssv16110500 | <0.001 | 1 | 5919 |