A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114319



Internal ID21485322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40252796..40252796hg38UCSC Ensembl
chr2:40479936..40479936hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607261
Supporting Variants
SamplesNA12878
Known GenesSLC8A1, SLC8A1-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114319
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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