A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2201058



Internal ID17847776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118368763..118371136hg38UCSC Ensembl
Innerchr2:119126339..119128712hg19UCSC Ensembl
Innerchr2:118842809..118845182hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg382374
hg192374
hg182374
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963714
Supporting Variants
SamplesHGDP01029
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)nssv2201058
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