A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1825548



Internal ID17826953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237941055..237951492hg38UCSC Ensembl
Innerchr1:238104355..238114792hg19UCSC Ensembl
Innerchr1:236170978..236181415hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810438
hg1910438
hg1810438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945387
Supporting Variants
SamplesHGDP00998
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)nssv1825548
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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