A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548998



Internal ID16336407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201574673..201602943hg38UCSC Ensembl
Innerchr1:201543801..201572071hg19UCSC Ensembl
Innerchr1:199810424..199838694hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3828271
hg1928271
hg1828271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734689
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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