A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2179719



Internal ID17732002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84291065..84291870hg38UCSC Ensembl
Innerchr2:84518189..84518994hg19UCSC Ensembl
Innerchr2:84371700..84372505hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963628
Supporting Variants
SamplesHGDP00456
Known GenesFUNDC2P2
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)nssv2179719
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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