nsv4656682
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,724
- Description:nsv4034474 from gnomAD Structural Variants. 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: 1195 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1027 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 980 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1023 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1065 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4656682 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,223,128 | 54,242,851 |
| nsv4656682 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 198,114 | 217,814 |
| nsv4656682 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 198,118 | 217,813 |
| nsv4656682 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 197,928 | 217,595 |
| nsv4656682 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,727,000 | 54,746,700 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16156293 | copy number variation | Curated | Curated |
| nssv16164927 | copy number variation | Curated | Curated |
| nssv16173206 | copy number variation | Curated | Curated |
| nssv16174983 | copy number variation | Curated | Curated |
| nssv16176421 | copy number variation | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16156293 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 198,114 | 217,814 |
| nssv16164927 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 198,114 | 217,814 |
| nssv16173206 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 198,114 | 217,814 |
| nssv16174983 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 198,114 | 217,814 |
| nssv16176421 | Remapped | Perfect | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 198,114 | 217,814 |
| nssv16156293 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 198,118 | 217,813 |
| nssv16164927 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 198,118 | 217,813 |
| nssv16173206 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 198,118 | 217,813 |
| nssv16174983 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 198,118 | 217,813 |
| nssv16176421 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 198,118 | 217,813 |
| nssv16156293 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 197,928 | 217,595 |
| nssv16164927 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 197,928 | 217,595 |
| nssv16173206 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 197,928 | 217,595 |
| nssv16174983 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 197,928 | 217,595 |
| nssv16176421 | Remapped | Good | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 197,928 | 217,595 |
| nssv16156293 | Remapped | Good | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,223,128 | 54,242,851 |
| nssv16164927 | Remapped | Good | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,223,128 | 54,242,851 |
| nssv16173206 | Remapped | Good | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,223,128 | 54,242,851 |
| nssv16174983 | Remapped | Good | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,223,128 | 54,242,851 |
| nssv16176421 | Remapped | Good | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,223,128 | 54,242,851 |
| nssv16156293 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,727,000 | 54,746,700 | ||
| nssv16164927 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,727,000 | 54,746,700 | ||
| nssv16173206 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,727,000 | 54,746,700 | ||
| nssv16174983 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,727,000 | 54,746,700 | ||
| nssv16176421 | Submitted genomic | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,727,000 | 54,746,700 |
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) |
|---|---|---|---|
| nssv16156293 | 0.069 | 751 | 10847 |
| nssv16164927 | 0.01 | 110 | 10847 |
| nssv16173206 | 0.544 | 5902 | 10847 |
| nssv16174983 | 0.283 | 3065 | 10847 |
| nssv16176421 | 0.085 | 922 | 10847 |