A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979213



Internal ID18896898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71420386..71420481hg38UCSC Ensembl
Outerchr10:73180143..73180238hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116649
Supporting Variants
SamplesKWS2
Known GenesCDH23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979213
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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