A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917791



Internal ID12599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127862176..127862628hg38UCSC Ensembl
chr2:128619750..128620202hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435084
Supporting Variants
Samples
Known GenesAMMECR1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917791
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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