A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143138



Internal ID342339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11977802..11995573hg38UCSC Ensembl
chr12:12130736..12148507hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817772
hg1917772
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055917
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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