A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2101889



Internal ID17402466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49406601..49407101hg38UCSC Ensembl
Innerchr17:47483963..47484463hg19UCSC Ensembl
Innerchr17:44838962..44839462hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962338
Supporting Variants
SamplesHGDP00521
Known GenesPHB
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)nssv2101889
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