A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191182



Internal ID22341924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99886216..99886269hg38UCSC Ensembl
chr3:99605060..99605113hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14308999, nssv14309000
SamplesNA19239, HG00513
Known GenesCMSS1, FILIP1L, MIR548G
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191182
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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