A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1926447



Internal ID17744516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39463091..39467197hg38UCSC Ensembl
Innerchr12:39856893..39860999hg19UCSC Ensembl
Innerchr12:38143160..38147266hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384107
hg194107
hg184107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976606
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)nssv1926447
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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