A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2917748



Internal ID15757034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142639883..142640379hg38UCSC Ensembl
Innerchr5:142019448..142019944hg19UCSC Ensembl
Innerchr5:141999632..142000128hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38497
hg19497
hg18497
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514325
Supporting Variants
SamplesNA19190
Known GenesFGF1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2917748
Frequency
Sample Size2366
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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