A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5910226



Internal ID22685437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3620054..3621221hg38UCSC Ensembl
chr8:3477576..3478743hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448951
Samples
Known GenesCSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5910226
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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