A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018558



Internal ID18761091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7329098..7969833hg38UCSC Ensembl
Innerchr8:7186620..7827355hg19UCSC Ensembl
Innerchr8:7174030..7864765hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38640736
hg19640736
hg18690736
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3754093, nssv3677958
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, 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)nsv1018558
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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