A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415458



Internal ID22473328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42635875..42644163hg38UCSC Ensembl
chr5:42635977..42644265hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg388289
hg198289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899648
Supporting Variants
Samples
Known GenesGHR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415458
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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