A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144572



Internal ID343777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30388486..30394486hg38UCSC Ensembl
chr16:30399807..30405807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707677
Samples
Known GenesZNF48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144572
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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