A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546437



Internal ID15987160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64230394..64538095hg38UCSC Ensembl
Innerchr1:64696077..65003778hg19UCSC Ensembl
Innerchr1:64468665..64776366hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38307702
hg19307702
hg18307702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv716139
Samples
Known GenesCACHD1, UBE2U
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546437
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