A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981826



Internal ID19211977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169029725..169030046hg38UCSC Ensembl
Outerchr2:169886235..169886556hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119031
Supporting Variants
SamplesKWS1
Known GenesABCB11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981826
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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