A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5828573



Internal ID22603508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184002196..184007631hg38UCSC Ensembl
chr1:183971330..183976765hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385436
hg195436
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17462575
Samples
Known GenesCOLGALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5828573
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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