A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514175



Internal ID15465869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151793730..151832482hg38UCSC Ensembl
Innerchr3:151511518..151550270hg19UCSC Ensembl
Innerchr3:152994208..153032960hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3838753
hg1938753
hg1838753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2891973, nssv2891976, nssv2891974, nssv2891977, nssv2891975
SamplesNA12489, NA10837, NA12287, NA12273, NA11829
Known GenesAADAC, MIR548H2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514175
Frequency
Sample Size2366
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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