A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18124629



Internal ID20691669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127548701..127549500hg38UCSC Ensembl
chr5:126884393..126885192hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402164
Supporting Variants
Samples
Known GenesPRRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18124629
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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