A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997956



Internal ID19190733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:36810840..36810919hg38UCSC Ensembl
Outerchr14:37280045..37280124hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152919
Supporting Variants
SamplesKWB1
Known GenesSLC25A21
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997956
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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