A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956571



Internal ID22731748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234377101..234377101hg38UCSC Ensembl
chr1:234512847..234512847hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360449
Samples
Known GenesCOA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956571
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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