A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18075362



Internal ID20642403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109577498..109584444hg38UCSC Ensembl
chr2:110335075..110342021hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg386947
hg196947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349981
Supporting Variants
Samples
Known GenesSEPT10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18075362
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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