A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548669



Internal ID16336078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194323379..194361570hg38UCSC Ensembl
Innerchr1:194292509..194330700hg19UCSC Ensembl
Innerchr1:192559132..192597323hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3838192
hg1938192
hg1838192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv718n54
Supporting Variantsnssv732835, nssv732836
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548669
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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