A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979727



Internal ID18890525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:75156330..75160774hg38UCSC Ensembl
Outerchr2:75383456..75387900hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg384445
hg194445
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142958
Supporting Variants
SamplesKWS2
Known GenesTACR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979727
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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