A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027675



Internal ID18770207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7172456..7952372hg38UCSC Ensembl
Innerchr8:7029978..7809894hg19UCSC Ensembl
Innerchr8:7017388..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38779917
hg19779917
hg18829917
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6896n100
Supporting Variantsnssv3677672, nssv3754045, nssv3754043, nssv3677673, nssv3754044, nssv3677671, nssv3677674, nssv3677670, nssv3677669, nssv3677668
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, LINC00965, 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)nsv1027675
Frequency
Sample Size29084
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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