A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548457



Internal ID16335866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188248288..188344699hg38UCSC Ensembl
Innerchr1:188217419..188313830hg19UCSC Ensembl
Innerchr1:186484042..186580453hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3896412
hg1996412
hg1896412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv730670
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548457
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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