A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143596



Internal ID342797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9288650..9294650hg38UCSC Ensembl
chr12:9441246..9447246hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055803
Samples
Known GenesLOC642846
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143596
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