A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015845



Internal ID18758379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7542794hg38UCSC Ensembl
Innerchr8:7214599..7400316hg19UCSC Ensembl
Innerchr8:7202009..7387726hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38185718
hg19185718
hg18185718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6906n100
Supporting Variantsnssv3678536
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015845
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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