A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2942072



Internal ID15281468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142750239..142757887hg38UCSC Ensembl
Innerchr7:142458090..142465734hg19UCSC Ensembl
Innerchr7:142137664..142145312hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387649
hg197645
hg187649
Variant TypeCNV gain
Copy Number12
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515039
Supporting Variants
SamplesNA12274
Known GenesPRSS1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2942072
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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