A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113426



Internal ID21463583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70730062..70730062hg38UCSC Ensembl
chr2:70957194..70957194hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384315
hg194315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610077
Supporting Variants
SamplesHG03009
Known GenesADD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113426
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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