A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022384



Internal ID18764918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7414647..7775589hg38UCSC Ensembl
Innerchr8:7272169..7633111hg19UCSC Ensembl
Innerchr8:7259579..7670521hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38360943
hg19360943
hg18410943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3680054, nssv3680053
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022384
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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