A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126015



Internal ID20693055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140292514..140293235hg38UCSC Ensembl
chr5:139672099..139672820hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408458
Supporting Variants
Samples
Known GenesPFDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126015
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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