A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317335



Internal ID22205469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240184516..240184922hg38UCSC Ensembl
chr1:240347816..240348222hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200962
Supporting Variants
SamplesHG00732
Known GenesFMN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14317335
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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