A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14386593



Internal ID22128441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49731865..49732364hg38UCSC Ensembl
chr17:47809227..47809726hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211696
Supporting Variants
SamplesHG00512
Known GenesFAM117A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14386593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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