nsv5393136
- 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:1,461
- Description:nsv4865338 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: 184 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 54,955,201 | 54,956,661 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 937,683 | 939,143 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 667,362 | 668,822 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 859,039 | 860,499 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 873,566 | 875,026 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 937,273 | 938,733 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 962,724 | 964,184 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 935,187 | 936,647 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 600,403 | 601,863 |
| nsv5393136 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 858,599 | 860,059 |
| nsv5393136 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,466,569 | 55,468,029 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16887453 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16887453 | Remapped | Perfect | NT_187693.1:g.9376 83_939143dup | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 937,683 | 939,143 |
| nssv16887453 | Remapped | Perfect | NW_003571061.2:g.6 67362_668822dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 667,362 | 668,822 |
| nssv16887453 | Remapped | Perfect | NW_003571060.1:g.8 59039_860499dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 859,039 | 860,499 |
| nssv16887453 | Remapped | Perfect | NW_003571059.2:g.8 73566_875026dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 873,566 | 875,026 |
| nssv16887453 | Remapped | Perfect | NW_003571058.2:g.9 37273_938733dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 937,273 | 938,733 |
| nssv16887453 | Remapped | Perfect | NW_003571057.2:g.9 62724_964184dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 962,724 | 964,184 |
| nssv16887453 | Remapped | Perfect | NW_003571056.2:g.9 35187_936647dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 935,187 | 936,647 |
| nssv16887453 | Remapped | Perfect | NW_003571055.2:g.6 00403_601863dup | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 600,403 | 601,863 |
| nssv16887453 | Remapped | Perfect | NW_003571054.1:g.8 58599_860059dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 858,599 | 860,059 |
| nssv16887453 | Remapped | Perfect | NC_000019.10:g.549 55201_54956661dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 54,955,201 | 54,956,661 |
| nssv16887453 | Submitted genomic | NC_000019.9:g.5546 6569_55468029dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,466,569 | 55,468,029 |
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) |
|---|---|---|---|
| nssv16887453 | 0.038 | 641 | 16834 |