A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114130



Internal ID21450317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30780340..30780340hg38UCSC Ensembl
chr2:31003206..31003206hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5609864
Supporting Variants
SamplesHG01114
Known GenesCAPN13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114130
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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