A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413492



Internal ID22471362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148173138..148173138hg38UCSC Ensembl
chr5:147552701..147552701hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959165
Supporting Variants
Samples
Known GenesSPINK14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413492
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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