A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139371



Internal ID338556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56948811..56952275hg38UCSC Ensembl
chr3:56982839..56986303hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg383465
hg193465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932833
Samples
Known GenesARHGEF3, ARHGEF3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139371
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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