A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548661



Internal ID16336070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193422168..193501104hg38UCSC Ensembl
Innerchr1:193391298..193470234hg19UCSC Ensembl
Innerchr1:191657921..191736857hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3878937
hg1978937
hg1878937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732829
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548661
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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