A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438948



Internal ID217498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119311655..119313813hg38UCSC Ensembl
chr3:119030502..119032660hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939440
Samples
Known GenesARHGAP31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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