A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16915456



Internal ID11044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73457788..73461371hg38UCSC Ensembl
chr2:73684915..73688498hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg383584
hg193584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446274
Supporting Variants
Samples
Known GenesALMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16915456
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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