A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897462



Internal ID22672565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149732806..149736237hg38UCSC Ensembl
chr6:150053942..150057373hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383432
hg193432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412336
Samples
Known GenesNUP43
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897462
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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