A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559051



Internal ID16346460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59110819..59148336hg38UCSC Ensembl
Innerchr12:59504600..59542117hg19UCSC Ensembl
Innerchr12:57790867..57828384hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3837518
hg1937518
hg1837518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175728
SamplesHGDP00552
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559051
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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