A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546143



Internal ID15986866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44021608..44059004hg38UCSC Ensembl
Innerchr1:44487280..44524676hg19UCSC Ensembl
Innerchr1:44259867..44297263hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3837397
hg1937397
hg1837397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712876
Samples
Known GenesSLC6A9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546143
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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