A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387985



Internal ID22445855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6395135..6397132hg38UCSC Ensembl
chr18:6395134..6397131hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381998
hg191998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936263
Supporting Variants
Samples
Known GenesL3MBTL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387985
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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