A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547975



Internal ID15988698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157204235..157205375hg38UCSC Ensembl
Innerchr1:157174025..157175165hg19UCSC Ensembl
Innerchr1:155440649..155441789hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381141
hg191141
hg181141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n54
Supporting Variantsnssv724952, nssv724953
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547975
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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