A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030873



Internal ID17541052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:74348034..74366664hg38UCSC Ensembl
Innerchr15:74640375..74659005hg19UCSC Ensembl
Innerchr15:72427428..72446058hg18UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3818631
hg1918631
hg1818631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984091
Supporting Variants
SamplesHGDP01307
Known GenesCYP11A1, LOC729739
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2030873
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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