A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548425



Internal ID322179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180507331..180507331hg38UCSC Ensembl
chr2:181372058..181372058hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922402
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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