A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv878119



Internal ID15825389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10681714..10817568hg38UCSC Ensembl
Innerchr18:10681711..10817566hg19UCSC Ensembl
Innerchr18:10671711..10807566hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38135855
hg19135856
hg18135856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576477
Supporting Variants
Samples
Known GenesPIEZO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv878119
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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