A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999100



Internal ID18845687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120089328..120089381hg38UCSC Ensembl
Outerchr12:120527132..120527185hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151919
Supporting Variants
SamplesKWB1
Known GenesCCDC64
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999100
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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