A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976764



Internal ID22751699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36926060..36926060hg38UCSC Ensembl
chr20:35554463..35554463hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399759
Samples
Known GenesSAMHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976764
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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