A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14291252



Internal ID22125271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3464351..3468000hg38UCSC Ensembl
chr19:3464349..3467998hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220938
Supporting Variants
SamplesHG00512
Known GenesNFIC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14291252
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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