A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396687



Internal ID22454557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202040052..202040052hg38UCSC Ensembl
chr2:202904775..202904775hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948996
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396687
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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