nsv4868426
- 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:4,165
- 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: 123 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 123 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4868426 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 41,599,111 (+118) | 41,603,275 (-85, +2) |
nsv4868426 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 78,726 (+118) | 82,890 (-85, +2) |
nsv4868426 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 42,105,466 (+118) | 42,109,630 (-85, +2) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16375550 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16375550 | Remapped | Perfect | NT_187620.1:g.(?_7 8844)_(82805_82892 )del | GRCh38.p12 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 78,726 (+118) | 82,890 (-85, +2) |
nssv16375550 | Remapped | Perfect | NC_000019.10:g.(?_ 41599229)_(4160319 0_41603277)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 41,599,111 (+118) | 41,603,275 (-85, +2) |
nssv16375550 | Submitted genomic | NC_000019.9:g.(?_4 2105584)_(42109545 _42109632)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 42,105,466 (+118) | 42,109,630 (-85, +2) |
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) |
---|---|---|---|
nssv16375550 | <0.001 | 3 | 16834 |