A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021317



Internal ID19110534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12581370hg38UCSC Ensembl
Innerchr8:12260915..12438879hg19UCSC Ensembl
Innerchr8:12305286..12483250hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38177965
hg19177965
hg18177965
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7055n100
Supporting Variantsnssv3760151, nssv3666012, nssv3666010, nssv3666018, nssv3666009, nssv3666015, nssv3666013, nssv3760152, nssv3666016, nssv3666017, nssv3666019, nssv3760150, nssv3666014, nssv3666011, nssv3666008, nssv3666020, nssv3666007
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)nsv1021317
Frequency
Sample Size11257
Observed Gain12
Observed Loss5
Observed Complex0
Frequencyn/a


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