A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149816



Internal ID15527744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57657967..57685157hg38UCSC Ensembl
Innerchr18:55325199..55352389hg19UCSC Ensembl
Innerchr18:53476197..53503387hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3827191
hg1927191
hg1827191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv577033
Supporting Variants
SamplesHGDP00540
Known GenesATP8B1, LOC100505549
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149816
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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