A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977296



Internal ID18900020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5949968..5952868hg38UCSC Ensembl
Outerchr2:6090100..6093000hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139709
Supporting Variants
SamplesKWS2
Known GenesLINC01105
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977296
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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