A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17550218



Internal ID21874573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139290438..139291943hg38UCSC Ensembl
chr5:138626127..138627632hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381506
hg191506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6011589
Supporting Variants
Samples
Known GenesMATR3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17550218
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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