A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144158



Internal ID343362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51639883..51650576hg38UCSC Ensembl
chr12:52033667..52044360hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3810694
hg1910694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058611
Samples
Known GenesSCN8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144158
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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