A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548608



Internal ID16336017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191780378..191854738hg38UCSC Ensembl
Innerchr1:191749508..191823868hg19UCSC Ensembl
Innerchr1:190016131..190090491hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3874361
hg1974361
hg1874361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732633
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548608
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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