A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3956357



Internal ID19214890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:180701175..180701227hg38UCSC Ensembl
Outerchr2:181565902..181565954hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138870
Supporting Variants
SamplesKWS1
Known GenesSCHLAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3956357
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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