A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546231



Internal ID15986954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52137527..52144342hg38UCSC Ensembl
Innerchr1:52603199..52610014hg19UCSC Ensembl
Innerchr1:52375787..52382602hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386816
hg196816
hg186816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv273n54
Supporting Variantsnssv713046
Samples
Known GenesZFYVE9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546231
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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