A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1172593



Internal ID15876294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:4057494..4239667hg38UCSC Ensembl
Innerchr1:4117554..4299727hg19UCSC Ensembl
Innerchr1:4017414..4199587hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38182174
hg19182174
hg18182174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545133
Supporting Variants
SamplesHGDP00817
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1172593
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