A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14295917



Internal ID22161413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214864037..214866107hg38UCSC Ensembl
chr2:215728761..215730831hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195891
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14295917
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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