A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2848796



Internal ID15240501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161443602..161481554hg38UCSC Ensembl
Innerchr1:161413392..161451344hg19UCSC Ensembl
Innerchr1:159680016..159717968hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3837953
hg1937953
hg1837953
Variant TypeCNV gain
Copy Number47
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514914
Supporting Variants
SamplesNA06986
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2848796
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer