A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548305



Internal ID322072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95090720..95090720hg38UCSC Ensembl
chr2:95756465..95756465hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915336
Samples
Known GenesMRPS5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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