A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030364



Internal ID19119583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129279358..129375546hg38UCSC Ensembl
Innerchr5:128615051..128711239hg19UCSC Ensembl
Innerchr5:128642950..128739138hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3896189
hg1996189
hg1896189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5807n100
Supporting Variantsnssv3648102
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030364
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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