A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116652



Internal ID18933271
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 StatusM
Merged Variants
Supporting Variantsnssv3979216
SamplesKWS2
Known GenesKCNMA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116652
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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