A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1752448



Internal ID17843698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13221843..13284263hg38UCSC Ensembl
Innerchr1:13327331..13389874hg19UCSC Ensembl
Innerchr1:13199918..13262461hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3862421
hg1962544
hg1862544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945778
Supporting Variants
SamplesHGDP01029
Known GenesPRAMEF22, PRAMEF23, PRAMEF3, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv1752448
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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