nsv5392218
- 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:677
- Description:nsv4865340 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: 170 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 55,019,180 | 55,019,856 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 1,001,662 | 1,002,338 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 731,341 | 732,017 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 1,001,252 | 1,001,928 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 1,026,703 | 1,027,379 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 921,962 | 922,638 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 937,545 | 938,221 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 999,166 | 999,842 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 664,382 | 665,058 |
| nsv5392218 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 922,578 | 923,254 |
| nsv5392218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 55,530,548 | 55,531,224 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16870265 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16870265 | Remapped | Perfect | NT_187693.1:g.1001 662_1002338dup | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 1,001,662 | 1,002,338 |
| nssv16870265 | Remapped | Perfect | NW_003571061.2:g.7 31341_732017dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 731,341 | 732,017 |
| nssv16870265 | Remapped | Perfect | NW_003571060.1:g.9 21962_922638dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 921,962 | 922,638 |
| nssv16870265 | Remapped | Perfect | NW_003571059.2:g.9 37545_938221dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 937,545 | 938,221 |
| nssv16870265 | Remapped | Perfect | NW_003571058.2:g.1 001252_1001928dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 1,001,252 | 1,001,928 |
| nssv16870265 | Remapped | Perfect | NW_003571057.2:g.1 026703_1027379dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 1,026,703 | 1,027,379 |
| nssv16870265 | Remapped | Perfect | NW_003571056.2:g.9 99166_999842dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 999,166 | 999,842 |
| nssv16870265 | Remapped | Perfect | NW_003571055.2:g.6 64382_665058dup | GRCh38.p12 | Second Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 664,382 | 665,058 |
| nssv16870265 | Remapped | Perfect | NW_003571054.1:g.9 22578_923254dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 922,578 | 923,254 |
| nssv16870265 | Remapped | Perfect | NC_000019.10:g.550 19180_55019856dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 55,019,180 | 55,019,856 |
| nssv16870265 | Submitted genomic | NC_000019.9:g.5553 0548_55531224dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 55,530,548 | 55,531,224 |
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) |
|---|---|---|---|
| nssv16870265 | 0.042 | 702 | 16834 |