A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1788180



Internal ID17780688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148967739..148983734hg38UCSC Ensembl
Innerchr1:144900740..144916736hg19UCSC Ensembl
Innerchr1:143612097..143628093hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3815996
hg1915997
hg1815997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946248
Supporting Variants
SamplesHGDP00665
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
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)nssv1788180
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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