A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173707



Internal ID15506683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12854043hg38UCSC Ensembl
Innerchr1:12860749..12913896hg19UCSC Ensembl
Innerchr1:12783336..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3853443
hg1953148
hg1853148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545470
Supporting Variants
Samples1780854128_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)nssv1173707
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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