A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606559



Internal ID16393968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550705..31553119hg38UCSC Ensembl
Innerchr7:31590319..31592733hg19UCSC Ensembl
Innerchr7:31556844..31559258hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382415
hg192415
hg182415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11266n54
Supporting Variantsnssv1082479
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606559
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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