A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2204049



Internal ID17731968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130430925..130510100hg38UCSC Ensembl
Innerchr2:131188498..131267673hg19UCSC Ensembl
Innerchr2:130904968..130984143hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3879176
hg1979176
hg1879176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979119
Supporting Variants
SamplesHGDP00456
Known GenesCYP4F62P, POTEI
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)nssv2204049
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