A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992678



Internal ID19237549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:38575705..38711569hg38UCSC Ensembl
Outerchr10:38868800..39004700hg19UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg38135865
hg19135901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141171
Supporting Variants
SamplesKWS2
Known GenesACTR3BP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992678
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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