A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678172



Internal ID15068138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25361301..25430099hg38UCSC Ensembl
Innerchr22:25757268..25826066hg19UCSC Ensembl
Innerchr22:24087268..24156066hg18UCSC Ensembl
Innerchr22:24081822..24150620hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3868799
hg1968799
hg1868799
hg1768799
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)nssv678172
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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