A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3469997



Internal ID18716983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792599..12954384hg38UCSC Ensembl
Innerchr1:12852748..13015495hg19UCSC Ensembl
Innerchr1:12775335..12938082hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38161786
hg19162748
hg18162748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003633
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3469997
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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