A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378743



Internal ID22170045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11736710..11737324hg38UCSC Ensembl
chr17:11640027..11640641hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222207
Supporting Variants
SamplesHG00514
Known GenesDNAH9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378743
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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