A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029650



Internal ID19118868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:108034378..108099613hg38UCSC Ensembl
Innerchr5:107370079..107435314hg19UCSC Ensembl
Innerchr5:107397978..107463213hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3865236
hg1965236
hg1865236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3646994
Samples
Known GenesFBXL17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029650
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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