A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193952



Internal ID20760992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:121974001..121975600hg38UCSC Ensembl
chr10:123733516..123735115hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6442656
Supporting Variants
Samples
Known GenesNSMCE4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193952
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00021


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