A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548083



Internal ID16335492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:163652294..163748425hg38UCSC Ensembl
Innerchr1:163622025..163717662hg19UCSC Ensembl
Innerchr1:161888649..161984286hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3896132
hg1995638
hg1895638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727704, nssv727705
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548083
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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