A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021140



Internal ID19110358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7545918hg38UCSC Ensembl
Innerchr8:7214599..7403440hg19UCSC Ensembl
Innerchr8:7202009..7390850hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38188842
hg19188842
hg18188842
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6923n100
Supporting Variantsnssv3678538, nssv3678539, nssv3678540
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021140
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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