A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989471



Internal ID19242214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134237693..134237790hg38UCSC Ensembl
Outerchr2:134995264..134995361hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135876
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989471
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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