A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3697979



Internal ID18649574
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009423
Supporting Variants
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)nssv3697979
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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