A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132444



Internal ID20699484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59679401..59681300hg38UCSC Ensembl
chr5:58975227..58977126hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407376
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132444
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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