A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031622



Internal ID18774156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7930151hg38UCSC Ensembl
Innerchr8:7214599..7787673hg19UCSC Ensembl
Innerchr8:7202009..7825083hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38573075
hg19573075
hg18623075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678596, nssv3754165, nssv3678597, nssv3678595, nssv3678594, nssv3754166, nssv3678593
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031622
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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