A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546235



Internal ID16333644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52141979..52144342hg38UCSC Ensembl
Innerchr1:52607651..52610014hg19UCSC Ensembl
Innerchr1:52380239..52382602hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382364
hg192364
hg182364
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713071, nssv713072, nssv713073
Samples
Known GenesZFYVE9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546235
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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