A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020512



Internal ID19109731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7141698..7397576hg38UCSC Ensembl
Innerchr8:6999220..7255098hg19UCSC Ensembl
Innerchr8:6986630..7242508hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38255879
hg19255879
hg18255879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6884n100
Supporting Variantsnssv3677507, nssv3677506
Samples
Known GenesDEFB109P1B, FAM66B, LINC00965, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020512
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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