A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394915



Internal ID174341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73454233..73454284hg38UCSC Ensembl
chr2:73681360..73681411hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915453
Samples
Known GenesALMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394915
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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