A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18136488



Internal ID20703528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94943030..94943665hg38UCSC Ensembl
chr5:94278734..94279369hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6401140
Supporting Variants
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18136488
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00138


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