A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144923



Internal ID344128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30710486..30716486hg38UCSC Ensembl
chr16:30721807..30727807hg19UCSC 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 Variantsnssv17707706
Samples
Known GenesSNORA30, SRCAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144923
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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