A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145348



Internal ID344553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7391111..7399111hg38UCSC Ensembl
chr17:7294430..7302430hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711202
Samples
Known GenesPLSCR3, TMEM256-PLSCR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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