A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1838419



Internal ID17844212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:30511135..30518908hg38UCSC Ensembl
Innerchr10:30800064..30807837hg19UCSC Ensembl
Innerchr10:30840070..30847843hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg387774
hg197774
hg187774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947809
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv1838419
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