A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019008



Internal ID18761541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..8008628hg38UCSC Ensembl
Innerchr8:7250368..7866150hg19UCSC Ensembl
Innerchr8:7237778..7903560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38615783
hg19615783
hg18665783
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3679554, nssv3679553, nssv3679558, nssv3755219, nssv3679557, nssv3679556, nssv3679552, nssv3679555, nssv3679559, nssv3679560, nssv3679561
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019008
Frequency
Sample Size29084
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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