A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040300



Internal ID19129519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35133750..35174682hg38UCSC Ensembl
Innerchr14:35602956..35643888hg19UCSC Ensembl
Innerchr14:34672707..34713639hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3840933
hg1940933
hg1840933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528617
Samples
Known GenesKIAA0391
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040300
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