A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113497



Internal ID21415251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55061066..55061066hg38UCSC Ensembl
chr2:55288202..55288202hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3839194
hg1939194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608608
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113497
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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