A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608342



Internal ID16049065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:124909519..124960451hg38UCSC Ensembl
Innerchr7:124549573..124600505hg19UCSC Ensembl
Innerchr7:124336809..124387741hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg3850933
hg1950933
hg1850933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1093603
Samples
Known GenesPOT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608342
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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