A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2393496



Internal ID17853495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:12513833..12515157hg38UCSC Ensembl
Innerchr6:12514065..12515389hg19UCSC Ensembl
Innerchr6:12622051..12623375hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381325
hg191325
hg181325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970077
Supporting Variants
SamplesHGDP01029
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)nssv2393496
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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