A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2944062



Internal ID15743746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144350870..144380582hg38UCSC Ensembl
Innerchr7:144047963..144077675hg19UCSC Ensembl
Innerchr7:143678896..143708608hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3829713
hg1929713
hg1829713
Variant TypeCNV gain
Copy Number7
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515042
Supporting Variants
SamplesNA19146
Known GenesARHGEF5
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2944062
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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