A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023316



Internal ID18765849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52853703..52980958hg38UCSC Ensembl
Innerchr8:53766263..53893518hg19UCSC Ensembl
Innerchr8:53928816..54056071hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38127256
hg19127256
hg18127256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3687522
Samples
Known GenesNPBWR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023316
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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