A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981220



Internal ID19210266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239400106..239401406hg38UCSC Ensembl
Outerchr2:240321800..240323100hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118899
Supporting Variants
SamplesKWS1
Known GenesHDAC4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981220
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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