A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044086



Internal ID19133305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48757577..48775995hg38UCSC Ensembl
Innerchr13:49331713..49350131hg19UCSC Ensembl
Innerchr13:48229714..48248132hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3818419
hg1918419
hg1818419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523450
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)nsv1044086
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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