A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430804



Internal ID21088357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50362127..51408643hg38UCSC Ensembl
chr8:51274687..52321203hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381046517
hg191046517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18167531
Samples
Known GenesPXDNL, SNTG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430804
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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