A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998567



Internal ID19158103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37659101..37683484hg38UCSC Ensembl
Innerchr2:37886244..37910627hg19UCSC Ensembl
Innerchr2:37739748..37764131hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3824384
hg1924384
hg1824384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581474
Samples
Known GenesCDC42EP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998567
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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