A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3468675



Internal ID18716284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12785708..12850732hg38UCSC Ensembl
Innerchr1:12845851..12910585hg19UCSC Ensembl
Innerchr1:12768438..12833172hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3865025
hg1964735
hg1864735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014276
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)nssv3468675
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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