A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962138



Internal ID22737079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199795577..199795577hg38UCSC Ensembl
chr2:200660300..200660300hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402442
Samples
Known GenesFTCDNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962138
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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