A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144353



Internal ID343558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28566486..28628486hg38UCSC Ensembl
chr16:28577807..28639807hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3862001
hg1962001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707259
Samples
Known GenesCCDC101, SULT1A1, SULT1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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