A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517045



Internal ID15444338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132727492..132728260hg38UCSC Ensembl
Innerchr3:132446336..132447104hg19UCSC Ensembl
Innerchr3:133929026..133929794hg18UCSC Ensembl
Innerchr3:133929034..133929802hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38769
hg19769
hg18769
hg17769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv653682, nssv676154
Samples
Known GenesNPHP3-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517045
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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