A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019629



Internal ID18762164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7779952..7952372hg38UCSC Ensembl
Innerchr8:7637474..7809894hg19UCSC Ensembl
Innerchr8:7674884..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38172421
hg19172421
hg18172421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6960n100
Supporting Variantsnssv3680895
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1019629
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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