A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17107430



Internal ID21483897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100643378..100643378hg38UCSC Ensembl
chr2:101259840..101259840hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5606319
Supporting Variants
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17107430
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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