A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034328



Internal ID18776862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7545521hg38UCSC Ensembl
Innerchr8:7250368..7403043hg19UCSC Ensembl
Innerchr8:7237778..7390453hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38152676
hg19152676
hg18152676
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6932n100
Supporting Variantsnssv3679000, nssv3679002, nssv3678998, nssv3678999, nssv3679001
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)nsv1034328
Frequency
Sample Size29084
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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