A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055978



Internal ID19145197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:62198457..62239748hg38UCSC Ensembl
Innerchr18:59865690..59906981hg19UCSC Ensembl
Innerchr18:58016670..58057961hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3841292
hg1941292
hg1841292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3565623
Samples
Known GenesKIAA1468
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055978
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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