A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977233



Internal ID18900145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24832279..24835179hg38UCSC Ensembl
Outerchr16:24843600..24846500hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139648
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977233
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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