A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606593



Internal ID16394002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32169847..32383787hg38UCSC Ensembl
Innerchr7:32209459..32423399hg19UCSC Ensembl
Innerchr7:32175984..32389924hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38213941
hg19213941
hg18213941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11269n54
Supporting Variantsnssv1082664
Samples
Known GenesPDE1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606593
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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