A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009423



Internal ID18751954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12850732hg38UCSC Ensembl
Innerchr1:12852748..12910585hg19UCSC Ensembl
Innerchr1:12775335..12833172hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3858134
hg1957838
hg1857838
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n100
Supporting Variantsnssv3697979, nssv3463447
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009423
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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