A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521424



Internal ID15102031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15159994..15160960hg38UCSC Ensembl
Innerchr19:15270805..15271771hg19UCSC Ensembl
Innerchr19:15131805..15132771hg18UCSC Ensembl
Innerchr19:15131805..15132771hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38967
hg19967
hg18967
hg17967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694445
Samples
Known GenesNOTCH3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521424
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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