A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999350



Internal ID19158886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76909851..76964537hg38UCSC Ensembl
Innerchr1:77375536..77430222hg19UCSC Ensembl
Innerchr1:77148124..77202810hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3854687
hg1954687
hg1854687
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv200n100
Supporting Variantsnssv3480090
Samples
Known GenesST6GALNAC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999350
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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