A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5828812



Internal ID22603747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193179439..193180978hg38UCSC Ensembl
chr1:193148569..193150108hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg381540
hg191540
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17466351, nssv17451888
Samples
Known GenesB3GALT2, CDC73
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5828812
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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