A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17491942



Internal ID22549869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186206835..186239355hg38UCSC Ensembl
chr4:187127989..187160509hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3832521
hg1932521
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5839081
Supporting Variants
Samples
Known GenesCYP4V2, KLKB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17491942
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