A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143623



Internal ID342824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132262362..132287000hg38UCSC Ensembl
chr12:132838948..132863586hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824639
hg1924639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685640
Samples
Known GenesGALNT9, LOC100130238
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143623
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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