A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139117



Internal ID338301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172612012..172681706hg38UCSC Ensembl
chr3:172329802..172399496hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3869695
hg1969695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941369
Samples
Known GenesNCEH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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