A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027963



Internal ID18770494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7535076..7894609hg38UCSC Ensembl
Innerchr8:7392598..7752131hg19UCSC Ensembl
Innerchr8:7380008..7789541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38359534
hg19359534
hg18409534
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6948n100
Supporting Variantsnssv3680695, nssv3680694
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, 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)nsv1027963
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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