A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548422



Internal ID322176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76556976..76556976hg38UCSC Ensembl
chr2:76784102..76784102hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915552
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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