A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1755671



Internal ID17431168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20152642..20161876hg38UCSC Ensembl
Innerchr1:20479135..20488369hg19UCSC Ensembl
Innerchr1:20351722..20360956hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg389235
hg199235
hg189235
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945810
Supporting Variants
SamplesHGDP00665
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)nssv1755671
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