A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002419



Internal ID18744951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12802093..12858224hg38UCSC Ensembl
Innerchr1:12862229..12918079hg19UCSC Ensembl
Innerchr1:12784816..12840666hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3856132
hg1955851
hg1855851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3481472
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002419
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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