A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027315



Internal ID18769847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52591257..52793969hg38UCSC Ensembl
Innerchr8:53503817..53706529hg19UCSC Ensembl
Innerchr8:53666370..53869082hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38202713
hg19202713
hg18202713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7220n100
Supporting Variantsnssv3687514
Samples
Known GenesRB1CC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027315
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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