A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606571



Internal ID16393980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31550861..31553119hg38UCSC Ensembl
Innerchr7:31590475..31592733hg19UCSC Ensembl
Innerchr7:31557000..31559258hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382259
hg192259
hg182259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11266n54
Supporting Variantsnssv1082569, nssv1082568, nssv1082567
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606571
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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