A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030018



Internal ID19119237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382641..12562779hg38UCSC Ensembl
Innerchr8:12240150..12420288hg19UCSC Ensembl
Innerchr8:12284521..12464659hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38180139
hg19180139
hg18180139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7053n100
Supporting Variantsnssv3664833
Samples
Known GenesDEFB109P1, FAM66A, 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)nsv1030018
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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