A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997656



Internal ID18839957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43175000..43175081hg38UCSC Ensembl
Outerchr1:43640671..43640752hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148867
Supporting Variants
SamplesKWB1
Known GenesWDR65
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997656
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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