A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144355



Internal ID343560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56407421..56441295hg38UCSC Ensembl
chr16:56441333..56475207hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3833875
hg1933875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706015
Samples
Known GenesAMFR, NUDT21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144355
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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