A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576502



Internal ID16363911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12657196..12658192hg38UCSC Ensembl
Innerchr18:12657195..12658191hg19UCSC Ensembl
Innerchr18:12647195..12648191hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38997
hg19997
hg18997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5863n54
Supporting Variantsnssv878374, nssv878375
Samples
Known GenesSPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576502
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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