A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959668



Internal ID19215122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:130578129..130582529hg38UCSC Ensembl
Outerchr7:130262400..130266800hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg384401
hg194401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119233
Supporting Variants
SamplesKWS1
Known GenesCOPG2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959668
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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