A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545080



Internal ID15985803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2464013..2553994hg38UCSC Ensembl
Innerchr1:2395452..2485433hg19UCSC Ensembl
Innerchr1:2385312..2486265hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3889982
hg1989982
hg18100954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv708749
Samples
Known GenesHES5, LOC100133445, LOC115110, PANK4, PLCH2, TNFRSF14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545080
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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