A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022571



Internal ID18765105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7329098..8008268hg38UCSC Ensembl
Innerchr8:7186620..7865790hg19UCSC Ensembl
Innerchr8:7174030..7903200hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38679171
hg19679171
hg18729171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3677961
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, 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)nsv1022571
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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