A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976181



Internal ID51520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143238972..143240294hg38UCSC Ensembl
chr5:142618537..142619859hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459920
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976181
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006556


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