A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548880



Internal ID322593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151771391..151771391hg38UCSC Ensembl
chr2:152627905..152627905hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925505
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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