A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3574969



Internal ID18526564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48948950..49021211hg38UCSC Ensembl
Innerchr19:49452207..49524468hg19UCSC Ensembl
Innerchr19:54144019..54216280hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3872262
hg1972262
hg1872262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057463
Supporting Variants
Samples
Known GenesBAX, FTL, GYS1, LHB, LOC101059948, MIR6798, RUVBL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3574969
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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