A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139032



Internal ID338216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43635835..43707835hg38UCSC Ensembl
chr1:44101506..44173506hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3872001
hg1972001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901804
Samples
Known GenesKDM4A, KDM4A-AS1, ST3GAL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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