A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030518



Internal ID18773049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7379657..7775833hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg18396177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6940n100
Supporting Variantsnssv3680665, nssv3680663, nssv3680664
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030518
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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