nsv4670060
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,504
- Description:nsv4619116 from DECIPHER Consensus CNVs. 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: 1225 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1046 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 992 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1042 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1084 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4670060 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,221,178 | 54,245,681 |
| nsv4670060 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 196,164 | 220,648 |
| nsv4670060 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 196,168 | 220,649 |
| nsv4670060 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,978 | 220,417 |
| nsv4670060 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,725,050 | 54,749,534 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16186387 | deletion | Curated | Curated |
| nssv16200669 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16186387 | Remapped | Perfect | NT_187693.1:g.(?_1 96164)_(220648_?)d el | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 196,164 | 220,648 |
| nssv16200669 | Remapped | Perfect | NT_187693.1:g.(?_1 96164)_(220648_?)d up | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 196,164 | 220,648 |
| nssv16186387 | Remapped | Good | NW_003571060.1:g.( ?_196168)_(220649_ ?)del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 196,168 | 220,649 |
| nssv16200669 | Remapped | Good | NW_003571060.1:g.( ?_196168)_(220649_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 196,168 | 220,649 |
| nssv16186387 | Remapped | Good | NW_003571054.1:g.( ?_195978)_(220417_ ?)del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,978 | 220,417 |
| nssv16200669 | Remapped | Good | NW_003571054.1:g.( ?_195978)_(220417_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,978 | 220,417 |
| nssv16186387 | Remapped | Good | NC_000019.10:g.(?_ 54221178)_(5424568 1_?)del | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,221,178 | 54,245,681 |
| nssv16200669 | Remapped | Good | NC_000019.10:g.(?_ 54221178)_(5424568 1_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,221,178 | 54,245,681 |
| nssv16186387 | Submitted genomic | NC_000019.9:g.(?_5 4725050)_(54749534 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,725,050 | 54,749,534 | ||
| nssv16200669 | Submitted genomic | NC_000019.9:g.(?_5 4725050)_(54749534 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,725,050 | 54,749,534 |
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) |
|---|---|---|---|
| nssv16186387 | 0.161 | 136 | 845 |
| nssv16200669 | 0.067 | 57 | 845 |