A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998740



Internal ID19190318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36232669..36232726hg38UCSC Ensembl
Outerchr13:36806806..36806863hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149953
Supporting Variants
SamplesKWB1
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998740
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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