A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558936



Internal ID16346345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52692676..52693279hg38UCSC Ensembl
Innerchr12:53086460..53087063hg19UCSC Ensembl
Innerchr12:51372727..51373330hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2635n54
Supporting Variantsnssv796008
Samples
Known GenesKRT77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558936
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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