A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996411



Internal ID19194891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157264289..157264343hg38UCSC Ensembl
Outerchr7:157056983..157057037hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147621
Supporting Variants
SamplesKWB1
Known GenesUBE3C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996411
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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