A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144792



Internal ID343997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42565980..42571980hg38UCSC Ensembl
chr17:40717998..40723998hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724520
Samples
Known GenesCOASY, MLX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144792
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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