A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977239



Internal ID18881416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31949579..32258079hg38UCSC Ensembl
Outerchr16:31960900..32269400hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38308501
hg19308501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139654
Supporting Variants
SamplesKWS2
Known GenesHERC2P4, TP53TG3D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977239
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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