A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997767



Internal ID19187585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:23445276..23445350hg38UCSC Ensembl
Outerchr7:23484895..23484969hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148979
Supporting Variants
SamplesKWB1
Known GenesIGF2BP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997767
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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