A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420660



Internal ID22478530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94803617..94806545hg38UCSC Ensembl
chr5:94139322..94142250hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382929
hg192929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902556
Supporting Variants
Samples
Known GenesMCTP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420660
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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