A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032190



Internal ID18774724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52893043..52984766hg38UCSC Ensembl
Innerchr8:53805603..53897326hg19UCSC Ensembl
Innerchr8:53968156..54059879hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3891724
hg1991724
hg1891724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3687524
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)nsv1032190
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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