A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5833271



Internal ID22608206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47420424..47428040hg38UCSC Ensembl
chr2:47647563..47655179hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387617
hg197617
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17486149
Samples
Known GenesMSH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5833271
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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