A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517614



Internal ID15098221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4578636..4579631hg38UCSC Ensembl
Innerchr3:4620320..4621315hg19UCSC Ensembl
Innerchr3:4595320..4596315hg18UCSC Ensembl
Innerchr3:4595320..4596315hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38996
hg19996
hg18996
hg17996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667154, nssv668359, nssv652515
Samples
Known GenesITPR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517614
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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