A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145577



Internal ID344782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59975980..59987990hg38UCSC Ensembl
chr17:58053341..58065351hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3812011
hg1912011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713918
Samples
Known GenesTBC1D3P1-DHX40P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145577
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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