A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413819



Internal ID22471689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71653771..71654589hg38UCSC Ensembl
chr5:70949598..70950416hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890969
Supporting Variants
Samples
Known GenesMCCC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413819
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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