A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021183



Internal ID18763717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100290153..100885722hg38UCSC Ensembl
Innerchr5:99625857..100221426hg19UCSC Ensembl
Innerchr5:99653756..100249325hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38595570
hg19595570
hg18595570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3645771
Samples
Known GenesFAM174A, LOC100133050, ST8SIA4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021183
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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