A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523696



Internal ID15104303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29930113..29985800hg38UCSC Ensembl
Innerchr22:30326102..30381789hg19UCSC Ensembl
Innerchr22:28656102..28711789hg18UCSC Ensembl
Innerchr22:28650656..28706343hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3855688
hg1955688
hg1855688
hg1755688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699503
Samples
Known GenesMTMR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523696
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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