A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113214



Internal ID21506388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44780657..44780657hg38UCSC Ensembl
chr2:45007796..45007796hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381477
hg191477
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5609577
Supporting Variants
SamplesNA19983
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113214
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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