A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518350



Internal ID15445643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50695090..50708587hg38UCSC Ensembl
Innerchr22:51133518..51147015hg19UCSC Ensembl
Innerchr22:49480384..49493881hg18UCSC Ensembl
Innerchr22:49423662..49437159hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3813498
hg1913498
hg1813498
hg1713498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695778
Samples
Known GenesSHANK3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518350
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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