A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606483



Internal ID16047206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29169736..29496948hg38UCSC Ensembl
Innerchr7:29209352..29536564hg19UCSC Ensembl
Innerchr7:29175877..29503089hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38327213
hg19327213
hg18327213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11248n54
Supporting Variantsnssv1081722
Samples
Known GenesCHN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606483
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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