A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977366



Internal ID19228290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60141065..60146965hg38UCSC Ensembl
Outerchr2:60368200..60374100hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg385901
hg195901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115557
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977366
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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