A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606591



Internal ID16394000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32166807..32383787hg38UCSC Ensembl
Innerchr7:32206419..32423399hg19UCSC Ensembl
Innerchr7:32172944..32389924hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38216981
hg19216981
hg18216981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11269n54
Supporting Variantsnssv1155160
Samples1780854338_A
Known GenesPDE1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606591
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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