A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2026258



Internal ID17864556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:57976104..57980105hg38UCSC Ensembl
Innerchr15:58268302..58272303hg19UCSC Ensembl
Innerchr15:56055594..56059595hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg384002
hg194002
hg184002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976939
Supporting Variants
SamplesHGDP01284
Known GenesALDH1A2
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)nssv2026258
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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