A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694878



Internal ID15431530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45588021..45600230hg38UCSC Ensembl
Innerchr22:45983901..45996110hg19UCSC Ensembl
Innerchr22:44362565..44374774hg18UCSC Ensembl
Innerchr22:44304438..44316647hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3812210
hg1912210
hg1812210
hg1712210
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522106
Supporting Variants
Samples
Known GenesFBLN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694878
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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