A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1811547



Internal ID17826379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201970571..201978947hg38UCSC Ensembl
Innerchr1:201939699..201948075hg19UCSC Ensembl
Innerchr1:200206322..200214698hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg388377
hg198377
hg188377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946576
Supporting Variants
SamplesHGDP00998
Known GenesTIMM17A
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)nssv1811547
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer