A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015650



Internal ID19104868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128410262..128530873hg38UCSC Ensembl
Innerchr5:127745955..127866566hg19UCSC Ensembl
Innerchr5:127773854..127894465hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38120612
hg19120612
hg18120612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648100
Samples
Known GenesFBN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015650
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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