A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547973



Internal ID15988696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157204072..157205449hg38UCSC Ensembl
Innerchr1:157173862..157175239hg19UCSC Ensembl
Innerchr1:155440486..155441863hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381378
hg191378
hg181378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n54
Supporting Variantsnssv724938, nssv724942, nssv724934, nssv724944, nssv724946, nssv724939, nssv724937, nssv724941, nssv724947, nssv724932, nssv724935, nssv724933, nssv724943, nssv724940, nssv724950, nssv724936, nssv724948, nssv724945, nssv724949
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547973
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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