A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555595



Internal ID328749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10164145..10164196hg38UCSC Ensembl
chr2:10304271..10304322hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909980
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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