A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967918



Internal ID19221088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42796864..42799318hg38UCSC Ensembl
Outerchr3:42838356..42840810hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121252
Supporting Variants
SamplesKWS1
Known GenesHIGD1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967918
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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