A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918517



Internal ID13115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99447634..99447754hg38UCSC Ensembl
chr2:100064096..100064216hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453293
Supporting Variants
Samples
Known GenesREV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918517
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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