A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2415404



Internal ID17812249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:75586243..75586852hg38UCSC Ensembl
Innerchr6:76295959..76296568hg19UCSC Ensembl
Innerchr6:76352679..76353288hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38610
hg19610
hg18610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969421
Supporting Variants
SamplesHGDP00927
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)nssv2415404
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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