A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125246



Internal ID20692286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128161032..128161574hg38UCSC Ensembl
chr5:127496724..127497266hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404091
Supporting Variants
Samples
Known GenesSLC12A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125246
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00044


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