A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028127



Internal ID18770658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7598490hg38UCSC Ensembl
Innerchr8:7297328..7456012hg19UCSC Ensembl
Innerchr8:7284738..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38158685
hg19158685
hg18158685
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6934n100
Supporting Variantsnssv3680291, nssv3680284, nssv3756529, nssv3680282, nssv3680290, nssv3680285, nssv3680288, nssv3680283, nssv3680286, nssv3680287, nssv3680289
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A7P, 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)nsv1028127
Frequency
Sample Size29084
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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