A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027563



Internal ID18770095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23292116..23452401hg38UCSC Ensembl
Innerchr8:23149629..23309914hg19UCSC Ensembl
Innerchr8:23205574..23365859hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38160286
hg19160286
hg18160286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7139n100
Supporting Variantsnssv3760485
Samples
Known GenesENTPD4, LOC100507156, LOXL2, R3HCC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027563
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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