A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547636



Internal ID16335045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121734438..121743365hg38UCSC Ensembl
Innerchr1:121476236..121485163hg19UCSC Ensembl
Innerchr1:121177759..121186686hg18UCSC Ensembl
Cytoband1p11.1
Allele length
AssemblyAllele length
hg388928
hg198928
hg188928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723032, nssv723033, nssv723034
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547636
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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