A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1784770



Internal ID17846712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115846924..115857737hg38UCSC Ensembl
Innerchr1:116389545..116400358hg19UCSC Ensembl
Innerchr1:116191068..116201881hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3810814
hg1910814
hg1810814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946163
Supporting Variants
SamplesHGDP01029
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)nssv1784770
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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