nsv4865317
- 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:30,895
- 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: 300 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 168 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4865317 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,079,068 (-3, +1) | 54,109,844 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nsv4865317 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,582,333 (-3, +1) | 54,613,227 (-1, +4) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16390517 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16390517 | Remapped | Perfect | NT_187693.1:g.(534 43_53447)_(84339_8 4344)dup | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571061.2:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571057.2:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571058.2:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571059.2:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571060.1:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571056.2:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571055.2:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Perfect | NW_003571054.1:g.( 53443_53447)_(8433 9_84344)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 53,446 (-3, +1) | 84,340 (-1, +4) |
| nssv16390517 | Remapped | Good | NC_000019.10:g.(54 079065_54079069)_( 54109843_54109848) dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,079,068 (-3, +1) | 54,109,844 (-1, +4) |
| nssv16390517 | Submitted genomic | NC_000019.9:g.(545 82330_54582334)_(5 4613226_54613231)d up | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,582,333 (-3, +1) | 54,613,227 (-1, +4) |
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) |
|---|---|---|---|
| nssv16390517 | <0.001 | 2 | 16834 |