A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576929



Internal ID16364338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:52006180..52138102hg38UCSC Ensembl
Innerchr18:49532550..49664472hg19UCSC Ensembl
Innerchr18:47786548..47918470hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38131923
hg19131923
hg18131923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150594
SamplesHGDP00622
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576929
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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