A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206552



Internal ID20773592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119319204..119873037hg38UCSC Ensembl
chr2:120076780..120630613hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38553834
hg19553834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342612
Supporting Variants
Samples
Known GenesC2orf76, DBI, PCDP1, PTPN4, SCTR, TMEM177, TMEM37
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206552
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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