A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547981



Internal ID15988704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157266505..157385089hg38UCSC Ensembl
Innerchr1:157236295..157354879hg19UCSC Ensembl
Innerchr1:155502919..155621503hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38118585
hg19118585
hg18118585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv588n54
Supporting Variantsnssv725007
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547981
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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