A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2177189



Internal ID17435128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71215653..71220294hg38UCSC Ensembl
Innerchr2:71442783..71447424hg19UCSC Ensembl
Innerchr2:71296291..71300932hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384642
hg194642
hg184642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963618
Supporting Variants
SamplesHGDP00665
Known GenesPAIP2B
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)nssv2177189
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