A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973649



Internal ID18891066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:197494543..197494604hg38UCSC Ensembl
Outerchr2:198359267..198359328hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114161
Supporting Variants
SamplesKWS2
Known GenesHSPD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973649
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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