A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027517



Internal ID19116736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12384994..12513862hg38UCSC Ensembl
Innerchr8:12242503..12371371hg19UCSC Ensembl
Innerchr8:12286874..12415742hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38128869
hg19128869
hg18128869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7051n100
Supporting Variantsnssv3664911, nssv3664912, nssv3664915, nssv3664913, nssv3664914
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027517
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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