A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548932



Internal ID16336341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199049014..199129730hg38UCSC Ensembl
Innerchr1:199018143..199098858hg19UCSC Ensembl
Innerchr1:197284766..197365481hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3880717
hg1980716
hg1880716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv768n54
Supporting Variantsnssv734448
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548932
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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