A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995658



Internal ID19189600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:72444785..72444870hg38UCSC Ensembl
Outerchr14:72911493..72911578hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146500
Supporting Variants
SamplesKWB1
Known GenesRGS6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995658
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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