A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214615



Internal ID22361218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62545085..62545555hg38UCSC Ensembl
chr17:60622446..60622916hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374608, nssv14390378, nssv14378927, nssv14372826, nssv14376365
SamplesHG00512, NA19238, NA19239, HG00731, HG00733
Known GenesTLK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214615
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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