A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048247



Internal ID19137466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:86389015..86421185hg38UCSC Ensembl
Innerchr13:87041270..87073440hg19UCSC Ensembl
Innerchr13:85839271..85871441hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3832171
hg1932171
hg1832171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525423
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)nsv1048247
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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