A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144720



Internal ID343925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50280682..50307682hg38UCSC Ensembl
chr16:50314593..50341593hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3827001
hg1927001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708963
Samples
Known GenesADCY7, MIR6771
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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