A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002633



Internal ID19188965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:23034280..23042481hg38UCSC Ensembl
Outerchr7:23073899..23082100hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg388202
hg198202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149125
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002633
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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