A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16947430



Internal ID32319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39008325..39010867hg38UCSC Ensembl
chr4:39009945..39012487hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470909
Supporting Variants
Samples
Known GenesTMEM156
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16947430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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