A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125910



Internal ID20692950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148101828..148102555hg38UCSC Ensembl
chr5:147481391..147482118hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6410557
Supporting Variants
Samples
Known GenesSPINK5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125910
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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