A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516762



Internal ID15097369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:56927787..56954452hg38UCSC Ensembl
Innerchr18:54595018..54621683hg19UCSC Ensembl
Innerchr18:52746016..52772681hg18UCSC Ensembl
Innerchr18:52746016..52772681hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3826666
hg1926666
hg1826666
hg1726666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656934, nssv670675, nssv687985, nssv663186
Samples
Known GenesWDR7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516762
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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