A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144571



Internal ID343776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2156000..2212000hg38UCSC Ensembl
chr16:2206001..2262001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856001
hg1956001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706747
Samples
Known GenesBRICD5, CASKIN1, MLST8, PGP, TRAF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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