A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2391815



Internal ID17748587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:1513101..1514435hg38UCSC Ensembl
Innerchr6:1513336..1514670hg19UCSC Ensembl
Innerchr6:1458335..1459669hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg381335
hg191335
hg181335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965674
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2391815
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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