A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144136



Internal ID343340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93249908..93260426hg38UCSC Ensembl
chr12:93643684..93654202hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3810519
hg1910519
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690049
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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