A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6000128



Internal ID21909471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43198203..43198256hg38UCSC Ensembl
chr5:43198305..43198358hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17539870
Samples
Known GenesNIM1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6000128
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer