A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917747



Internal ID12571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127326299..127326338hg38UCSC Ensembl
chr2:128083875..128083914hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547624
Supporting Variants
Samples
Known GenesMAP3K2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.295036


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