A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516233



Internal ID15096840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121700454..121951558hg38UCSC Ensembl
Innerchr3:121419301..121670405hg19UCSC Ensembl
Innerchr3:122901991..123153095hg18UCSC Ensembl
Innerchr3:122901991..123153095hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38251105
hg19251105
hg18251105
hg17251105
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659303, nssv683419, nssv666972, nssv657113, nssv705127, nssv657458, nssv662453, nssv702341
Samples
Known GenesEAF2, GOLGB1, IQCB1, SLC15A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516233
Frequency
Sample Size2026
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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