A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058668



Internal ID18801199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48027173..48075632hg38UCSC Ensembl
Innerchr19:48530430..48578889hg19UCSC Ensembl
Innerchr19:53222242..53270701hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3848460
hg1948460
hg1848460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3611n100
Supporting Variantsnssv3574934, nssv3574935
Samples
Known GenesCABP5, PLA2G4C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058668
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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