A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999442



Internal ID18812292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97832269..98199547hg38UCSC Ensembl
Innerchr2:98448732..98816010hg19UCSC Ensembl
Innerchr2:97815164..98182442hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38367279
hg19367279
hg18367279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4027n100
Supporting Variantsnssv3580046, nssv3580047
Samples
Known GenesTMEM131, VWA3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999442
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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