A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132159



Internal ID20699199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72583401..72586200hg38UCSC Ensembl
chr5:71879228..71882027hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6397566
Supporting Variants
Samples
Known GenesLOC102477328
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132159
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer