A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522990



Internal ID15450283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227102438..227115211hg38UCSC Ensembl
Innerchr1:227290139..227302912hg19UCSC Ensembl
Innerchr1:225356762..225369535hg18UCSC Ensembl
Innerchr1:223596874..223609647hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3812774
hg1912774
hg1812774
hg1712774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698660
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522990
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