A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020854



Internal ID18763388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7941224hg38UCSC Ensembl
Innerchr8:7250368..7798746hg19UCSC Ensembl
Innerchr8:7237778..7836156hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38548379
hg19548379
hg18598379
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679316, nssv3679317
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020854
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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