A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545343



Internal ID16332752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8163772..8215224hg38UCSC Ensembl
Innerchr1:8223832..8275284hg19UCSC Ensembl
Innerchr1:8146419..8197871hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3851453
hg1951453
hg1851453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709651
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545343
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