A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558986



Internal ID16346395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53047051..53051920hg38UCSC Ensembl
Innerchr12:53440835..53445704hg19UCSC Ensembl
Innerchr12:51727102..51731971hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384870
hg194870
hg184870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796269
Samples
Known GenesLOC283335, TENC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558986
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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