A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020415



Internal ID18762950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38223888..38249049hg38UCSC Ensembl
Innerchr8:38081406..38106567hg19UCSC Ensembl
Innerchr8:38200563..38225724hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3825162
hg1925162
hg1825162
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685586, nssv3685589, nssv3685587, nssv3685588
Samples
Known GenesDDHD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020415
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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