A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057269



Internal ID19146488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:70762579..70813858hg38UCSC Ensembl
Innerchr18:68429815..68481094hg19UCSC Ensembl
Innerchr18:66580795..66632074hg18UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3851280
hg1951280
hg1851280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3398n100
Supporting Variantsnssv3562963, nssv3723219, nssv3562962
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057269
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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