A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019661



Internal ID18762196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7312955..8091956hg38UCSC Ensembl
Innerchr8:7170477..7949478hg19UCSC Ensembl
Innerchr8:7157887..7986888hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38779002
hg19779002
hg18829002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n100
Supporting Variantsnssv3677808, nssv3677809
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, 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)nsv1019661
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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