A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549272



Internal ID15989995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227748061..227858047hg38UCSC Ensembl
Innerchr1:227935762..228045748hg19UCSC Ensembl
Innerchr1:226002385..226112371hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38109987
hg19109987
hg18109987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737370
Samples
Known GenesPRSS38, SNAP47
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549272
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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