A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1800085



Internal ID17525322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154311761..154322262hg38UCSC Ensembl
Innerchr1:154284237..154294738hg19UCSC Ensembl
Innerchr1:152550861..152561362hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3810502
hg1910502
hg1810502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946406
Supporting Variants
SamplesHGDP01284
Known GenesAQP10
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)nssv1800085
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