A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921866



Internal ID15338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169029726..169030038hg38UCSC Ensembl
chr2:169886236..169886548hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447726
Supporting Variants
Samples
Known GenesABCB11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921866
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.14783


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