A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992675



Internal ID19233564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:19089771..19094071hg38UCSC Ensembl
Outerchr10:19378700..19383000hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141168
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992675
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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