A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1919149



Internal ID17811382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:17383114..17384600hg38UCSC Ensembl
Innerchr12:17536048..17537534hg19UCSC Ensembl
Innerchr12:17427315..17428801hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381487
hg191487
hg181487
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973037
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)nssv1919149
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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