A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026593



Internal ID18769125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7358497..7514711hg38UCSC Ensembl
Innerchr8:7216019..7372233hg19UCSC Ensembl
Innerchr8:7203429..7359643hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38156215
hg19156215
hg18156215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6924n100
Supporting Variantsnssv3678819
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026593
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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