A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6416182



Internal ID21073735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125127324..125142324hg38UCSC Ensembl
chr8:126139566..126154566hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18164656
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6416182
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