A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145456



Internal ID344661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45547980..45611980hg38UCSC Ensembl
chr17:43625346..43689346hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3864001
hg1964001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713382
Samples
Known GenesLOC644172
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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