nsv5389823
- 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:406
- Description:nsv4861384 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: 155 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 55,078,465 | 55,078,870 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 1,060,947 | 1,061,352 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 790,626 | 791,031 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 1,060,537 | 1,060,942 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 1,085,988 | 1,086,393 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 981,247 | 981,652 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 996,830 | 997,235 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 1,058,451 | 1,058,856 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 723,667 | 724,072 |
| nsv5389823 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 981,863 | 982,268 |
| nsv5389823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,589,833 | 55,590,238 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16886699 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16886699 | Remapped | Perfect | NT_187693.1:g.1060 947_1061352del | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 1,060,947 | 1,061,352 |
| nssv16886699 | Remapped | Perfect | NW_003571061.2:g.7 90626_791031del | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 790,626 | 791,031 |
| nssv16886699 | Remapped | Perfect | NW_003571060.1:g.9 81247_981652del | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 981,247 | 981,652 |
| nssv16886699 | Remapped | Perfect | NW_003571059.2:g.9 96830_997235del | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 996,830 | 997,235 |
| nssv16886699 | Remapped | Perfect | NW_003571058.2:g.1 060537_1060942del | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 1,060,537 | 1,060,942 |
| nssv16886699 | Remapped | Perfect | NW_003571057.2:g.1 085988_1086393del | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 1,085,988 | 1,086,393 |
| nssv16886699 | Remapped | Perfect | NW_003571056.2:g.1 058451_1058856del | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 1,058,451 | 1,058,856 |
| nssv16886699 | Remapped | Perfect | NW_003571055.2:g.7 23667_724072del | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 723,667 | 724,072 |
| nssv16886699 | Remapped | Perfect | NW_003571054.1:g.9 81863_982268del | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 981,863 | 982,268 |
| nssv16886699 | Remapped | Perfect | NC_000019.10:g.550 78465_55078870del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 55,078,465 | 55,078,870 |
| nssv16886699 | Submitted genomic | NC_000019.9:g.5558 9833_55590238del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,589,833 | 55,590,238 |
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) |
|---|---|---|---|
| nssv16886699 | 0.303 | 5104 | 16834 |