A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546233



Internal ID15986956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52141905..52144342hg38UCSC Ensembl
Innerchr1:52607577..52610014hg19UCSC Ensembl
Innerchr1:52380165..52382602hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382438
hg192438
hg182438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv274n54
Supporting Variantsnssv713051
Samples
Known GenesZFYVE9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546233
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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