A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872444



Internal ID22647384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16040228..16062667hg38UCSC Ensembl
chr1:16366723..16389162hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3822440
hg1922440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n209
Supporting Variantsnssv17365051
Samples
Known GenesCLCNKB, FAM131C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872444
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