A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030633



Internal ID18773164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7534398..7886530hg38UCSC Ensembl
Innerchr8:7391920..7744052hg19UCSC Ensembl
Innerchr8:7379330..7781462hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38352133
hg19352133
hg18402133
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6948n100
Supporting Variantsnssv3680647, nssv3680648
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)nsv1030633
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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