A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431971



Internal ID210731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37590667..37591717hg38UCSC Ensembl
chr1:38056268..38057318hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902050
Samples
Known GenesGNL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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