A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126734



Internal ID20693774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148126958..148132090hg38UCSC Ensembl
chr5:147506521..147511653hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385133
hg195133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406836
Supporting Variants
Samples
Known GenesSPINK5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126734
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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