A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576511



Internal ID16363920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12657248..12658192hg38UCSC Ensembl
Innerchr18:12657247..12658191hg19UCSC Ensembl
Innerchr18:12647247..12648191hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38945
hg19945
hg18945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5860n54
Supporting Variantsnssv878393
Samples
Known GenesSPIRE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576511
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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