nsv4865319
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,007
- Publication(s):Abel et al. 2020
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: 1228 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1064 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 1021 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1060 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1114 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4865319 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,220,613 (-127, +1) | 54,239,613 (+104) |
| nsv4865319 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,597 (-127, +1) | 214,603 (+104) |
| nsv4865319 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 195,597 (-127, +1) | 214,601 (+104) |
| nsv4865319 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,601 (-127, +1) | 214,602 (+104) |
| nsv4865319 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,413 (-127, +1) | 214,386 (+104) |
| nsv4865319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,724,483 (-127, +1) | 54,743,489 (+104) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16390519 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16390519 | Remapped | Perfect | NT_187693.1:g.(195 470_195598)_(?_214 707)dup | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 195,597 (-127, +1) | 214,603 (+104) |
| nssv16390519 | Remapped | Good | NW_003571061.2:g.( 195470_195598)_(?_ 214705)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 195,597 (-127, +1) | 214,601 (+104) |
| nssv16390519 | Remapped | Good | NW_003571060.1:g.( 195474_195602)_(?_ 214706)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 195,601 (-127, +1) | 214,602 (+104) |
| nssv16390519 | Remapped | Good | NW_003571054.1:g.( 195286_195414)_(?_ 214490)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 195,413 (-127, +1) | 214,386 (+104) |
| nssv16390519 | Remapped | Good | NC_000019.10:g.(54 220486_54220614)_( ?_54239717)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,220,613 (-127, +1) | 54,239,613 (+104) |
| nssv16390519 | Submitted genomic | NC_000019.9:g.(547 24356_54724484)_(? _54743593)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,724,483 (-127, +1) | 54,743,489 (+104) |
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) |
|---|---|---|---|
| nssv16390519 | <0.001 | 1 | 16830 |