A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029894



Internal ID18772425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:102284375..103249595hg38UCSC Ensembl
Innerchr5:101620079..102585296hg19UCSC Ensembl
Innerchr5:101647978..102613195hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38965221
hg19965218
hg18965218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3645901
Samples
Known GenesGIN1, LINC00491, LINC00492, PAM, PPIP5K2, SLCO4C1, SLCO6A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029894
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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