A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948913



Internal ID33297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40620112..40627439hg38UCSC Ensembl
chr4:40622129..40629456hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg387328
hg197328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458174
Supporting Variants
Samples
Known GenesRBM47
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948913
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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