A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003711



Internal ID19189711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174404771..174410272hg38UCSC Ensembl
Outerchr2:175269499..175275000hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150413
Supporting Variants
SamplesKWB1
Known GenesSCRN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003711
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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