A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024288



Internal ID18766821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:71574634..71820815hg38UCSC Ensembl
Innerchr7:71039619..71285800hg19UCSC Ensembl
Innerchr7:70677555..70923736hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38246182
hg19246182
hg18246182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6456n100
Supporting Variantsnssv3655696
Samples
Known GenesCALN1, WBSCR17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024288
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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