A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1783121



Internal ID17812506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113168928..113169539hg38UCSC Ensembl
Innerchr1:113711550..113712161hg19UCSC Ensembl
Innerchr1:113513073..113513684hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38612
hg19612
hg18612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946149
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)nssv1783121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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