A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2857513



Internal ID15369728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248590684..248632156hg38UCSC Ensembl
Innerchr1:248753985..248795457hg19UCSC Ensembl
Innerchr1:246820608..246862080hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3841473
hg1941473
hg1841473
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514048
Supporting Variants
SamplesNA18973
Known GenesOR2T10, OR2T11
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2857513
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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