A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001246



Internal ID18743777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53968517..54207695hg38UCSC Ensembl
Innerchr2:54195654..54434832hg19UCSC Ensembl
Innerchr2:54049158..54288336hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38239179
hg19239179
hg18239179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576629
Samples
Known GenesACYP2, PSME4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001246
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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