A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031414



Internal ID19120636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52783586..52968653hg38UCSC Ensembl
Innerchr8:53696146..53881213hg19UCSC Ensembl
Innerchr8:53858699..54043766hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38185068
hg19185068
hg18185068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7222n100
Supporting Variantsnssv3757262
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)nsv1031414
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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