A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545497



Internal ID15986220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811795..12854692hg38UCSC Ensembl
Innerchr1:12871936..12914545hg19UCSC Ensembl
Innerchr1:12794523..12837132hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3842898
hg1942610
hg1842610
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124n54
Supporting Variantsnssv710132
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)nsv545497
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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