A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079398



Internal ID20646438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148648601..148654500hg38UCSC Ensembl
chr2:149406170..149412069hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349641
Supporting Variants
Samples
Known GenesEPC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079398
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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