A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139144



Internal ID338328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17887011..17887062hg38UCSC Ensembl
chr2:18068278..18068329hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910186
Samples
Known GenesKCNS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139144
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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