A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020749



Internal ID19109967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7024871..7141698hg38UCSC Ensembl
Innerchr8:6882393..6999220hg19UCSC Ensembl
Innerchr8:6869803..6986630hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38116828
hg19116828
hg18116828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6883n100
Supporting Variantsnssv3677454
Samples
Known GenesDEFA11P, DEFA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020749
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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