A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017757



Internal ID18760291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7930428hg38UCSC Ensembl
Innerchr8:7214599..7787950hg19UCSC Ensembl
Innerchr8:7202009..7825360hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38573352
hg19573352
hg18623352
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3678605, nssv3678599, nssv3754167, nssv3678613, nssv3678600, nssv3678618, nssv3678614, nssv3678616, nssv3678612, nssv3678611, nssv3678604, nssv3754170, nssv3678608, nssv3678620, nssv3678609, nssv3754169, nssv3678601, nssv3754168, nssv3678610, nssv3678602, nssv3678615, nssv3678606, nssv3678607, nssv3678619, nssv3678617, nssv3678603
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, 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)nsv1017757
Frequency
Sample Size29084
Observed Gain21
Observed Loss5
Observed Complex0
Frequencyn/a


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