A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557350



Internal ID15998073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8697754..8698822hg38UCSC Ensembl
Innerchr12:8850350..8851418hg19UCSC Ensembl
Innerchr12:8741617..8742685hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381069
hg191069
hg181069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2341n54
Supporting Variantsnssv787452, nssv787451, nssv787450
Samples
Known GenesRIMKLB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557350
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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