A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697793



Internal ID15087759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66509128..66608725hg38UCSC Ensembl
Innerchr18:64176365..64275962hg19UCSC Ensembl
Innerchr18:62327345..62426942hg18UCSC Ensembl
Innerchr18:62327345..62426942hg17UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3899598
hg1999598
hg1899598
hg1799598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521111
Supporting Variants
Samples
Known GenesCDH19
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697793
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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