A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532769



Internal ID308682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36900498..36900824hg38UCSC Ensembl
chr20:35528901..35529227hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732228
Samples
Known GenesSAMHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532769
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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