A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394044



Internal ID173479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219014502..219014553hg38UCSC Ensembl
chr2:219879224..219879275hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925967
Samples
Known GenesCCDC108, LOC100129175
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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