nsv4633678
- 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:1,770
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: 428 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 319 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 371 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4633678 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,220,709 | 54,222,476 |
| nsv4633678 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,693 | 197,462 |
| nsv4633678 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,697 | 197,466 |
| nsv4633678 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,509 | 197,276 |
| nsv4633678 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,724,579 | 54,726,348 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16138485 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16138485 | Remapped | Perfect | NT_187693.1:g.(?_1 95693)_(197462_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,693 | 197,462 |
| nssv16138485 | Remapped | Perfect | NW_003571060.1:g.( ?_195697)_(197466_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,697 | 197,466 |
| nssv16138485 | Remapped | Good | NW_003571054.1:g.( ?_195509)_(197276_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,509 | 197,276 |
| nssv16138485 | Remapped | Good | NC_000019.10:g.(?_ 54220709)_(5422247 6_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,709 | 54,222,476 |
| nssv16138485 | Submitted genomic | NC_000019.9:g.(?_5 4724579)_(54726348 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,579 | 54,726,348 |
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) |
|---|---|---|---|
| nssv16138485 | 0.001 | 1 | 845 |