A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557344



Internal ID15998067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8697651..8698558hg38UCSC Ensembl
Innerchr12:8850247..8851154hg19UCSC Ensembl
Innerchr12:8741514..8742421hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2341n54
Supporting Variantsnssv787437
Samples
Known GenesRIMKLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557344
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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