A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285617



Internal ID22119975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113921699..113922088hg38UCSC Ensembl
chr1:114464321..114464710hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525380
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14285617
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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