A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894967



Internal ID22670044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160397285..160397456hg38UCSC Ensembl
chr5:159824292..159824463hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425084
Samples
Known GenesC5orf54
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894967
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