A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1920790



Internal ID17401682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27654978..27656370hg38UCSC Ensembl
Innerchr12:27807911..27809303hg19UCSC Ensembl
Innerchr12:27699178..27700570hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381393
hg191393
hg181393
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976592
Supporting Variants
SamplesHGDP00521
Known GenesPPFIBP1
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)nssv1920790
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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