A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482935



Internal ID15235664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10001..2900002hg38UCSC Ensembl
Outerchr18:1..2900000hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg382890002
hg192900000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996115, nssv2995985
Samples
Known GenesADCYAP1, C18orf56, CBX3P2, CETN1, CLUL1, COLEC12, EMILIN2, ENOSF1, LINC00470, METTL4, MIR8078, NDC80, ROCK1P1, SMCHD1, THOC1, TYMS, USP14, YES1
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv482935
Frequency
Sample Size39
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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