A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032243



Internal ID18774777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7838727..7925628hg38UCSC Ensembl
Innerchr8:7696249..7783150hg19UCSC Ensembl
Innerchr8:7733659..7820560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3886902
hg1986902
hg1886902
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6965n100
Supporting Variantsnssv3680916, nssv3753711
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB4A, 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)nsv1032243
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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