A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979216



Internal ID18882674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77095010..77095077hg38UCSC Ensembl
Outerchr10:78854768..78854835hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116652
Supporting Variants
SamplesKWS2
Known GenesKCNMA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979216
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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