A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3678528



Internal ID18630123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7534398hg38UCSC Ensembl
Innerchr8:7214599..7391920hg19UCSC Ensembl
Innerchr8:7202009..7379330hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38177322
hg19177322
hg18177322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034231
Supporting Variants
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)nssv3678528
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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