nsv4601539
- 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:442,767
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: 2692 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 1121 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 775 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 2750 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4601539 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,908,391 | 11,351,157 |
| nsv4601539 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 107,097 | 546,120 |
| nsv4601539 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 107,097 | 408,271 |
| nsv4601539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,060,990 | 11,504,091 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16141633 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16141633 | Remapped | Good | NT_187658.1:g.(?_1 07097)_(546120_?)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 107,097 | 546,120 |
| nssv16141633 | Remapped | Pass | NW_003571050.1:g.( ?_107097)_(408271_ ?)del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 107,097 | 408,271 |
| nssv16141633 | Remapped | Good | NC_000012.12:g.(?_ 10908391)_(1135115 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,908,391 | 11,351,157 |
| nssv16141633 | Submitted genomic | NC_000012.11:g.(?_ 11060990)_(1150409 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,060,990 | 11,504,091 |
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) |
|---|---|---|---|
| nssv16141633 | <0.001 | 1 | 5919 |