A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028415



Internal ID18770946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7914028hg38UCSC Ensembl
Innerchr8:7214599..7771550hg19UCSC Ensembl
Innerchr8:7202009..7808960hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38556952
hg19556952
hg18606952
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3754161, nssv3754160
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, 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)nsv1028415
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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