A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559008



Internal ID15999731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55725810..55727410hg38UCSC Ensembl
Innerchr12:56119594..56121194hg19UCSC Ensembl
Innerchr12:54405861..54407461hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381601
hg191601
hg181601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2647n54
Supporting Variantsnssv796292, nssv796291
Samples
Known GenesCD63
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559008
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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