A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017258



Internal ID18759793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7172456..7941317hg38UCSC Ensembl
Innerchr8:7029978..7798839hg19UCSC Ensembl
Innerchr8:7017388..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38768862
hg19768862
hg18818862
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6896n100
Supporting Variantsnssv3677665, nssv3677662, nssv3677664, nssv3754042, nssv3677667, nssv3677663, nssv3677666
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)nsv1017258
Frequency
Sample Size29084
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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