A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546228



Internal ID16333637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51989861..51991487hg38UCSC Ensembl
Innerchr1:52455533..52457159hg19UCSC Ensembl
Innerchr1:52228121..52229747hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381627
hg191627
hg181627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv271n54
Supporting Variantsnssv713041
Samples
Known GenesRAB3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546228
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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