nsv5390218
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:266
- Description:nsv4861376 from Abel et. al 2020. 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: 198 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 54,975,294 | 54,975,559 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 957,776 | 958,041 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 687,455 | 687,720 |
| nsv5390218 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 878,036 | 878,300 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 893,659 | 893,924 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 957,366 | 957,631 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 982,817 | 983,082 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 955,280 | 955,545 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 620,496 | 620,761 |
| nsv5390218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 878,692 | 878,957 |
| nsv5390218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,486,662 | 55,486,927 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16886698 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16886698 | Remapped | Perfect | NT_187693.1:g.9577 76_958041del | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 957,776 | 958,041 |
| nssv16886698 | Remapped | Perfect | NW_003571061.2:g.6 87455_687720del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 687,455 | 687,720 |
| nssv16886698 | Remapped | Good | NW_003571060.1:g.8 78036_878300del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 878,036 | 878,300 |
| nssv16886698 | Remapped | Perfect | NW_003571059.2:g.8 93659_893924del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 893,659 | 893,924 |
| nssv16886698 | Remapped | Perfect | NW_003571058.2:g.9 57366_957631del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 957,366 | 957,631 |
| nssv16886698 | Remapped | Perfect | NW_003571057.2:g.9 82817_983082del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 982,817 | 983,082 |
| nssv16886698 | Remapped | Perfect | NW_003571056.2:g.9 55280_955545del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 955,280 | 955,545 |
| nssv16886698 | Remapped | Perfect | NW_003571055.2:g.6 20496_620761del | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 620,496 | 620,761 |
| nssv16886698 | Remapped | Perfect | NW_003571054.1:g.8 78692_878957del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 878,692 | 878,957 |
| nssv16886698 | Remapped | Perfect | NC_000019.10:g.549 75294_54975559del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 54,975,294 | 54,975,559 |
| nssv16886698 | Submitted genomic | NC_000019.9:g.5548 6662_55486927del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,486,662 | 55,486,927 |
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) |
|---|---|---|---|
| nssv16886698 | 0.118 | 1990 | 16834 |