A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18078157



Internal ID20645197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144713697..144715204hg38UCSC Ensembl
chr2:145471264..145472771hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381508
hg191508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341964
Supporting Variants
Samples
Known GenesTEX41
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18078157
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00028


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