A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022437



Internal ID18764971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..8197726hg38UCSC Ensembl
Innerchr8:7250368..8055248hg19UCSC Ensembl
Innerchr8:7237778..8092658hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38804881
hg19804881
hg18854881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6915n100
Supporting Variantsnssv3679572, nssv3679571
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022437
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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