A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015175



Internal ID18757710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..8145511hg38UCSC Ensembl
Innerchr8:7214599..8003033hg19UCSC Ensembl
Innerchr8:7202009..8040443hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38788435
hg19788435
hg18838435
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6896n100
Supporting Variantsnssv3678781, nssv3678782
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, 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)nsv1015175
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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