A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv826398



Internal ID6139438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204118781..204122270hg19UCSC Ensembl
Innerchr1:202385404..202388893hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1432496
SamplesNA18972
Known GenesETNK2
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv826398
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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