A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145078



Internal ID344283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2145359..2210463hg38UCSC Ensembl
chr17:2048653..2113757hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3865105
hg1965105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710897
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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