nsv4255228
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,001
- Publication(s):gnomAD_Structural_Variants
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: 27 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4255228 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,198,135 | 54,203,132 |
| nsv4255228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 173,114 | 178,114 |
| nsv4255228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 173,114 | 178,114 |
| nsv4255228 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 173,106 | 178,104 |
| nsv4255228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 173,114 | 178,114 |
| nsv4255228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 173,114 | 178,114 |
| nsv4255228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 173,114 | 178,114 |
| nsv4255228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 173,114 | 178,114 |
| nsv4255228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 173,114 | 178,114 |
| nsv4255228 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 172,933 | 177,931 |
| nsv4255228 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000019.9 | Chr19 | 54,702,000 | 54,707,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15962513 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15962513 | Remapped | Perfect | NT_187693.1:g.1731 14_178114dup | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 173,114 | 178,114 |
| nssv15962513 | Remapped | Perfect | NW_003571061.2:g.1 73114_178114dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 173,114 | 178,114 |
| nssv15962513 | Remapped | Good | NW_003571060.1:g.1 73106_178104dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 173,106 | 178,104 |
| nssv15962513 | Remapped | Perfect | NW_003571057.2:g.1 73114_178114dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 173,114 | 178,114 |
| nssv15962513 | Remapped | Perfect | NW_003571058.2:g.1 73114_178114dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 173,114 | 178,114 |
| nssv15962513 | Remapped | Perfect | NW_003571059.2:g.1 73114_178114dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 173,114 | 178,114 |
| nssv15962513 | Remapped | Perfect | NW_003571056.2:g.1 73114_178114dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 173,114 | 178,114 |
| nssv15962513 | Remapped | Perfect | NW_003571055.2:g.1 73114_178114dup | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 173,114 | 178,114 |
| nssv15962513 | Remapped | Good | NW_003571054.1:g.1 72933_177931dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 172,933 | 177,931 |
| nssv15962513 | Remapped | Good | NC_000019.10:g.541 98135_54203132dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,198,135 | 54,203,132 |
| nssv15962513 | Submitted genomic | NC_000019.9:g.5470 2000_54707000dup | GRCh37.p13 | NC_000019.9 | Chr19 | 54,702,000 | 54,707,000 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv15962513 | 0.004 | 88 | 20704 |