A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992865



Internal ID19237278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130438427..130445327hg38UCSC Ensembl
Outerchr2:131196000..131202900hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg386901
hg196901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141362
Supporting Variants
SamplesKWS2
Known GenesCYP4F62P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992865
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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