A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146179



Internal ID345384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75759980..75771980hg38UCSC Ensembl
chr17:73756061..73768061hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714654
Samples
Known GenesGALK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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