A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606485



Internal ID16047208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29169745..29497091hg38UCSC Ensembl
Innerchr7:29209361..29536707hg19UCSC Ensembl
Innerchr7:29175886..29503232hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38327347
hg19327347
hg18327347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11248n54
Supporting Variantsnssv1081724
Samples
Known GenesCHN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606485
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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