A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974059



Internal ID50081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138434240..138434507hg38UCSC Ensembl
chr5:137769929..137770196hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141037
Supporting Variants
Samples
Known GenesKDM3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974059
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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