A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832099



Internal ID22607034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190457136..190464385hg38UCSC Ensembl
chr2:191321862..191329111hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17488812
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832099
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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