A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16915453



Internal ID11042
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 StatusS
Merged Variantsnsv5394915
Supporting Variants
Samples
Known GenesALMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16915453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.014205


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