A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576443



Internal ID16363852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9205246..9206789hg38UCSC Ensembl
Innerchr18:9205244..9206787hg19UCSC Ensembl
Innerchr18:9195244..9196787hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5847n54
Supporting Variantsnssv878054
Samples
Known GenesANKRD12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576443
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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