A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470656



Internal ID248410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1780846..1790339hg38UCSC Ensembl
chr6:1781080..1790573hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg389494
hg199494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977864
Samples
Known GenesGMDS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470656
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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