A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402989



Internal ID22460859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177216348..177216348hg38UCSC Ensembl
chr2:178081076..178081076hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957372
Supporting Variants
Samples
Known GenesHNRNPA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402989
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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