A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559006



Internal ID15999729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55725049..55727150hg38UCSC Ensembl
Innerchr12:56118833..56120934hg19UCSC Ensembl
Innerchr12:54405100..54407201hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382102
hg192102
hg182102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2646n54
Supporting Variantsnssv796289
Samples
Known GenesCD63
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559006
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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