A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028773



Internal ID18771304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7902059hg38UCSC Ensembl
Innerchr8:7297328..7759581hg19UCSC Ensembl
Innerchr8:7284738..7796991hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38462254
hg19462254
hg18512254
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3680320, nssv3753567, nssv3680319
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, 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)nsv1028773
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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