A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1916519



Internal ID17877406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10964539..10966131hg38UCSC Ensembl
Innerchr12:11117138..11118730hg19UCSC Ensembl
Innerchr12:11008405..11009997hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381593
hg191593
hg181593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976575
Supporting Variants
SamplesHGDP01307
Known GenesPRH1-PRR4
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)nssv1916519
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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