A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2850935



Internal ID15267412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152212884..152214676hg38UCSC Ensembl
Innerchr1:152185360..152187152hg19UCSC Ensembl
Innerchr1:150451984..150453776hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381793
hg191793
hg181793
Variant TypeCNV gain
Copy Number27
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514913
Supporting Variants
SamplesNA11917
Known GenesHRNR
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2850935
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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