A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577873



Internal ID16018596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79309720..79447124hg38UCSC Ensembl
Innerchr18:77069720..77207124hg19UCSC Ensembl
Innerchr18:75170708..75308112hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38137405
hg19137405
hg18137405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv889138
Samples
Known GenesATP9B, NFATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577873
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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