A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700084



Internal ID15090050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25361819..25373258hg38UCSC Ensembl
Innerchr22:25757786..25769225hg19UCSC Ensembl
Innerchr22:24087786..24099225hg18UCSC Ensembl
Innerchr22:24082340..24093779hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3811440
hg1911440
hg1811440
hg1711440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517205
Supporting Variants
Samples
Known GenesLRP5L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700084
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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