A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549274



Internal ID16336683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227828669..227857807hg38UCSC Ensembl
Innerchr1:228016370..228045508hg19UCSC Ensembl
Innerchr1:226082993..226112131hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3829139
hg1929139
hg1829139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174052
Samples1780854495_A
Known GenesPRSS38
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549274
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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