A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606592



Internal ID16394001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32169747..32360221hg38UCSC Ensembl
Innerchr7:32209359..32399833hg19UCSC Ensembl
Innerchr7:32175884..32366358hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38190475
hg19190475
hg18190475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11269n54
Supporting Variantsnssv1082663
Samples
Known GenesPDE1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606592
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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