A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063783



Internal ID18806314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:66515551..66606695hg38UCSC Ensembl
Innerchr18:64182788..64273932hg19UCSC Ensembl
Innerchr18:62333768..62424912hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3891145
hg1991145
hg1891145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3382n100
Supporting Variantsnssv3565657
Samples
Known GenesCDH19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063783
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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