A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173691



Internal ID15508007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12852235hg38UCSC Ensembl
Innerchr1:12860749..12912088hg19UCSC Ensembl
Innerchr1:12783336..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3851635
hg1951340
hg1851340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545469
Supporting Variants
Samples1780862294_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173691
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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