A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829407



Internal ID22604342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235445747..235448946hg38UCSC Ensembl
chr1:235609062..235612261hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17452825
Samples
Known GenesB3GALNT2, TBCE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829407
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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