A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15179800



Internal ID21318596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219941483..219941555hg38UCSC Ensembl
chr1:220114825..220114897hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3940040
Supporting Variants
SamplesHG002
Known GenesRNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15179800
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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