A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700151



Internal ID15090117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25361301..25363723hg38UCSC Ensembl
Innerchr22:25757268..25759690hg19UCSC Ensembl
Innerchr22:24087268..24089690hg18UCSC Ensembl
Innerchr22:24081822..24084244hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg382423
hg192423
hg182423
hg172423
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)nssv700151
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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