A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547959



Internal ID16335368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154658022..154696818hg38UCSC Ensembl
Innerchr1:154630498..154669294hg19UCSC Ensembl
Innerchr1:152897122..152935918hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3838797
hg1938797
hg1838797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173206
SamplesHGDP00637
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547959
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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