A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610323



Internal ID16051046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12312410..12403541hg38UCSC Ensembl
Innerchr8:12169919..12261050hg19UCSC Ensembl
Innerchr8:12214291..12305421hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3891132
hg1991132
hg1891131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11967n54
Supporting Variantsnssv1106611
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, LOC100133267, LOC649352
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610323
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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