A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17496382



Internal ID22554316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156958405..156967131hg38UCSC Ensembl
chr5:156385416..156394142hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg388727
hg198727
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5842072
Supporting Variants
Samples
Known GenesTIMD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17496382
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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