A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028080



Internal ID18770611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168737072..168776921hg38UCSC Ensembl
Innerchr5:168164077..168203926hg19UCSC Ensembl
Innerchr5:168096655..168136504hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3839850
hg1939850
hg1839850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649120
Samples
Known GenesMIR218-2, SLIT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028080
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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