A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999194



Internal ID18812044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12802183..12954384hg38UCSC Ensembl
Innerchr1:12862319..13015495hg19UCSC Ensembl
Innerchr1:12784906..12938082hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38152202
hg19153177
hg18153177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3479949
Samples
Known GenesHNRNPCL1, LOC649330, 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)nsv999194
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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