A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132199



Internal ID20699239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73464762..73465887hg38UCSC Ensembl
chr5:72760587..72761712hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412598
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132199
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