A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522642



Internal ID15103249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79440845..79451764hg38UCSC Ensembl
Innerchr18:77200845..77211764hg19UCSC Ensembl
Innerchr18:75301833..75312752hg18UCSC Ensembl
Innerchr18:75301833..75312752hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3810920
hg1910920
hg1810920
hg1710920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv706042
Samples
Known GenesNFATC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522642
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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