A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026792



Internal ID19116010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12620670hg38UCSC Ensembl
Innerchr8:12260915..12478179hg19UCSC Ensembl
Innerchr8:12305286..12522550hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38217265
hg19217265
hg18217265
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7065n100
Supporting Variantsnssv3666871, nssv3666872, nssv3760172
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026792
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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