A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1938730



Internal ID17738742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76598134..76600662hg38UCSC Ensembl
Innerchr12:76991914..76994442hg19UCSC Ensembl
Innerchr12:75516045..75518573hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382529
hg192529
hg182529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983349
Supporting Variants
SamplesHGDP00456
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)nssv1938730
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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