A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545516



Internal ID15986239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12839881..12933421hg38UCSC Ensembl
Innerchr1:12899734..12993251hg19UCSC Ensembl
Innerchr1:12822321..12915838hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3893541
hg1993518
hg1893518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129n54
Supporting Variantsnssv710191
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545516
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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