A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702293



Internal ID15438945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36139081..36164739hg38UCSC Ensembl
Innerchr18:33719044..33744702hg19UCSC Ensembl
Innerchr18:31973042..31998700hg18UCSC Ensembl
Innerchr18:31973042..31998700hg17UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3825659
hg1925659
hg1825659
hg1725659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526055
Supporting Variants
Samples
Known GenesELP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702293
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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