A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754002



Internal ID18705597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7083080..7925628hg38UCSC Ensembl
Innerchr8:6940602..7783150hg19UCSC Ensembl
Innerchr8:6928012..7820560hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38842549
hg19842549
hg18892549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022167
Supporting Variants
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, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3754002
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer