A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964890



Internal ID19206507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157264230..157264288hg38UCSC Ensembl
Outerchr7:157056924..157056982hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129792
Supporting Variants
SamplesKWS1
Known GenesUBE3C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964890
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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