A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139896



Internal ID339086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184844587..184851100hg38UCSC Ensembl
chr1:184813721..184820234hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386514
hg196514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892900
Samples
Known GenesFAM129A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139896
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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