A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019496



Internal ID19108714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7780682hg38UCSC Ensembl
Innerchr8:7214599..7638204hg19UCSC Ensembl
Innerchr8:7202009..7675614hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38423606
hg19423606
hg18473606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6908n100
Supporting Variantsnssv3678551
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, 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)nsv1019496
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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