A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034201



Internal ID19123423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12331722..12616361hg38UCSC Ensembl
Innerchr8:12189231..12473870hg19UCSC Ensembl
Innerchr8:12233602..12518241hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38284640
hg19284640
hg18284640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7037n100
Supporting Variantsnssv3754364
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034201
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