A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1783214



Internal ID17846620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116589168..116627640hg38UCSC Ensembl
Innerchr1:117131790..117170262hg19UCSC Ensembl
Innerchr1:116933313..116971785hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3838473
hg1938473
hg1838473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946165
Supporting Variants
SamplesHGDP01029
Known GenesIGSF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1783214
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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