A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1789120



Internal ID17813784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149131182..149158510hg38UCSC Ensembl
Innerchr1:144538473..144565792hg19UCSC Ensembl
Innerchr1:143249830..143277149hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3827329
hg1927320
hg1827320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946238
Supporting Variants
SamplesHGDP00927
Known GenesLOC100288142
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)nssv1789120
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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