A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050248



Internal ID19139467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18471488..18795440hg38UCSC Ensembl
Innerchr13:19045628..19369580hg19UCSC Ensembl
Innerchr13:17943628..18267580hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38323953
hg19323953
hg18323953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3714925
Samples
Known GenesLINC00417
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050248
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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