A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300247



Internal ID22163211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5485669..5485839hg38UCSC Ensembl
chr1:5545729..5545899hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204550
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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