A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363735



Internal ID22326653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53173414..53173487hg38UCSC Ensembl
chr1:53639086..53639159hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202416
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363735
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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