A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1919645



Internal ID17779264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19942168..19944075hg38UCSC Ensembl
Innerchr12:20095102..20097009hg19UCSC Ensembl
Innerchr12:19986369..19988276hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg381908
hg191908
hg181908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975458
Supporting Variants
SamplesHGDP00665
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)nssv1919645
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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