A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089736



Internal ID20656776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73625901..73684400hg38UCSC Ensembl
chr2:73853028..73911527hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3858500
hg1958500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352612
Supporting Variants
Samples
Known GenesALMS1P, NAT8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089736
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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