A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021221



Internal ID19110439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52789786..52949395hg38UCSC Ensembl
Innerchr8:53702346..53861955hg19UCSC Ensembl
Innerchr8:53864899..54024508hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38159610
hg19159610
hg18159610
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7222n100
Supporting Variantsnssv3687519
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)nsv1021221
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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