A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997231



Internal ID19193178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:27503280..27507081hg38UCSC Ensembl
Outerchr7:27542899..27546700hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145867
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997231
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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