A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546581



Internal ID16333990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75431370..75471744hg38UCSC Ensembl
Innerchr1:75897055..75937429hg19UCSC Ensembl
Innerchr1:75669643..75710017hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3840375
hg1940375
hg1840375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv717547
Samples
Known GenesSLC44A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546581
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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