A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576517



Internal ID16363926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12657321..12658294hg38UCSC Ensembl
Innerchr18:12657320..12658293hg19UCSC Ensembl
Innerchr18:12647320..12648293hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38974
hg19974
hg18974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5863n54
Supporting Variantsnssv878401
Samples
Known GenesSPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576517
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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