A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024423



Internal ID19113640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101320582..101485143hg38UCSC Ensembl
Innerchr7:100963863..101128424hg19UCSC Ensembl
Innerchr7:100750583..100915144hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38164562
hg19164562
hg18164562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6537n100
Supporting Variantsnssv3655303
Samples
Known GenesCOL26A1, RABL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024423
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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