A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114224



Internal ID21503200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42447094..42447094hg38UCSC Ensembl
chr2:42674234..42674234hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619222
Supporting Variants
SamplesNA19239
Known GenesKCNG3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114224
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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