A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829239



Internal ID22604174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230102978..230108111hg38UCSC Ensembl
chr1:230238725..230243858hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg385134
hg195134
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17458344
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829239
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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