A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145901



Internal ID345106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:948868..1011928hg38UCSC Ensembl
chr17:852108..915168hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3863061
hg1963061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710754
Samples
Known GenesABR, NXN, TIMM22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145901
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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