A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv710124



Internal ID15657394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811189..12855993hg38UCSC Ensembl
Innerchr1:12871327..12915847hg19UCSC Ensembl
Innerchr1:12793914..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3844805
hg1944521
hg1844521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545493
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv710124
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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