A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998419



Internal ID19157955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164633101..164660161hg38UCSC Ensembl
Innerchr1:164602338..164629398hg19UCSC Ensembl
Innerchr1:162868962..162896022hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3827061
hg1927061
hg1827061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499035
Samples
Known GenesPBX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998419
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