A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143130



Internal ID342331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73414128..73711600hg38UCSC Ensembl
chr12:73807908..74105380hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38297473
hg19297473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689085
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143130
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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