A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548554



Internal ID16335963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190489634..190526877hg38UCSC Ensembl
Innerchr1:190458764..190496007hg19UCSC Ensembl
Innerchr1:188725387..188762630hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3837244
hg1937244
hg1837244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732570
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548554
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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