A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380323



Internal ID22438193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54156432..54156519hg38UCSC Ensembl
chr18:51682802..51682889hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928755
Supporting Variants
Samples
Known GenesMBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380323
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