A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976190



Internal ID51527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143343249..143345184hg38UCSC Ensembl
chr5:142722814..142724749hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381936
hg191936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458224
Supporting Variants
Samples
Known GenesNR3C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976190
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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