A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957931



Internal ID22733018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34839240..34839346hg38UCSC Ensembl
chr21:36211537..36211643hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392235
Samples
Known GenesRUNX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957931
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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