A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576228



Internal ID16016951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:69836..1506323hg38UCSC Ensembl
Innerchr18:69836..1506324hg19UCSC Ensembl
Innerchr18:59836..1496324hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381436488
hg191436489
hg181436489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150009
SamplesHGDP00609
Known GenesADCYAP1, C18orf56, CETN1, CLUL1, COLEC12, ENOSF1, LINC00470, MIR8078, ROCK1P1, THOC1, TYMS, USP14, YES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576228
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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