A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557348



Internal ID15998071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8697754..8698670hg38UCSC Ensembl
Innerchr12:8850350..8851266hg19UCSC Ensembl
Innerchr12:8741617..8742533hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38917
hg19917
hg18917
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv787445, nssv787444, nssv787446, nssv787443, nssv787442
Samples
Known GenesRIMKLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557348
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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