A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557675



Internal ID15998398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19146456..19316144hg38UCSC Ensembl
Innerchr12:19299390..19469078hg19UCSC Ensembl
Innerchr12:19190657..19360345hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38169689
hg19169689
hg18169689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789463
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557675
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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