A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17980485



Internal ID20547525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120467202..120469247hg38UCSC Ensembl
chr10:122226714..122228759hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382046
hg192046
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6454801
Supporting Variants
Samples
Known GenesPPAPDC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17980485
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.74978


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