A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048990



Internal ID19138209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:79845361..79882319hg38UCSC Ensembl
Innerchr13:80419496..80456454hg19UCSC Ensembl
Innerchr13:79317497..79354455hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3836959
hg1936959
hg1836959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1715n100
Supporting Variantsnssv3713241
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)nsv1048990
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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