A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208174



Internal ID20775214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215046725..216125546hg38UCSC Ensembl
chr2:215911449..216990269hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381078822
hg191078821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348450
Supporting Variants
Samples
Known GenesABCA12, ATIC, FN1, LINC00607, MREG, PECR, TMEM169, XRCC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208174
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