A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143348



Internal ID342549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100858170..100858239hg38UCSC Ensembl
chr12:101251948..101252017hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690333
Samples
Known GenesANO4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer