A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143736



Internal ID342937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117354288..117354364hg38UCSC Ensembl
chr12:117792093..117792169hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684745
Samples
Known GenesNOS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143736
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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