A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521338



Internal ID15448631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58546615..58619934hg38UCSC Ensembl
Innerchr16:58580519..58653838hg19UCSC Ensembl
Innerchr16:57138020..57211339hg18UCSC Ensembl
Innerchr16:57138020..57211339hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3873320
hg1973320
hg1873320
hg1773320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697946
Samples
Known GenesCNOT1, SNORA46, SNORA50
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521338
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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