A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045438



Internal ID19134657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:58596712..58658925hg38UCSC Ensembl
Innerchr13:59170846..59233059hg19UCSC Ensembl
Innerchr13:58068847..58131060hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3862214
hg1962214
hg1862214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526583
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)nsv1045438
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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