A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522375



Internal ID15102982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79439478..79447124hg38UCSC Ensembl
Innerchr18:77199478..77207124hg19UCSC Ensembl
Innerchr18:75300466..75308112hg18UCSC Ensembl
Innerchr18:75300466..75308112hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg387647
hg197647
hg187647
hg177647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695154
Samples
Known GenesNFATC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522375
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