A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061730



Internal ID18804261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11543..322183hg38UCSC Ensembl
Innerchr18:11543..322183hg19UCSC Ensembl
Innerchr18:1543..312183hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38310641
hg19310641
hg18310641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3301n100
Supporting Variantsnssv3725177, nssv3569024, nssv3725176
Samples
Known GenesCOLEC12, MIR8078, ROCK1P1, THOC1, USP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061730
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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