A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998315



Internal ID18811165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73692058..73776871hg38UCSC Ensembl
Innerchr2:73919185..74003998hg19UCSC Ensembl
Innerchr2:73772693..73857506hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3884814
hg1984814
hg1884814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3870n100
Supporting Variantsnssv3581985
Samples
Known GenesDUSP11, NAT8B, TPRKB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998315
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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