A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518121



Internal ID15098728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4543865..4548997hg38UCSC Ensembl
Innerchr3:4585549..4590681hg19UCSC Ensembl
Innerchr3:4560549..4565681hg18UCSC Ensembl
Innerchr3:4560549..4565681hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg385133
hg195133
hg185133
hg175133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695537
Samples
Known GenesITPR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518121
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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