A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281750



Internal ID22199684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74787297..74787398hg38UCSC Ensembl
chr17:72783436..72783537hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220599
Supporting Variants
SamplesHG00732
Known GenesTMEM104
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281750
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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