A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6402471



Internal ID21060024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79069301..79069900hg38UCSC Ensembl
chr5:78365124..78365723hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18133399
Samples
Known GenesBHMT2, DMGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6402471
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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