A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144564



Internal ID343769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30188486..30290486hg38UCSC Ensembl
chr16:30199807..30301807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38102001
hg19102001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707664
Samples
Known GenesBOLA2, BOLA2B, CORO1A, LOC388242, LOC440354, LOC595101, LOC606724, LOC613037, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144564
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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