A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv828761



Internal ID6133851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57227802..57269569hg19UCSC Ensembl
Innerchr20:56661208..56702976hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1435580
SamplesNA18942
Known GenesNPEPL1, STX16, STX16-NPEPL1
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv828761
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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