A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576822



Internal ID16364231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47248199..47249202hg38UCSC Ensembl
Innerchr18:44774570..44775573hg19UCSC Ensembl
Innerchr18:43028568..43029571hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381004
hg191004
hg181004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5916n54
Supporting Variantsnssv882708
Samples
Known GenesSKOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576822
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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