A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145440



Internal ID344645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10039812..10040009hg38UCSC Ensembl
chr16:10133669..10133866hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707876
Samples
Known GenesGRIN2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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