A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982113



Internal ID21891456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186176979..186177114hg38UCSC Ensembl
chr1:186146111..186146246hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519099
Samples
Known GenesHMCN1, MIR548F1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982113
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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