A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546234



Internal ID16333643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52141979..52142493hg38UCSC Ensembl
Innerchr1:52607651..52608165hg19UCSC Ensembl
Innerchr1:52380239..52380753hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38515
hg19515
hg18515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713063, nssv713061, nssv713057, nssv713065, nssv713070, nssv713053, nssv713066, nssv713055, nssv713069, nssv713059, nssv713054, nssv713062, nssv713068, nssv713064, nssv713056, nssv713060, nssv713058, nssv713052, nssv713067
Samples
Known GenesZFYVE9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546234
Frequency
Sample Size17421
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer