A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2438556



Internal ID17396344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:25122317..25124488hg38UCSC Ensembl
Innerchr7:25161936..25164107hg19UCSC Ensembl
Innerchr7:25128461..25130632hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg382172
hg192172
hg182172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970453
Supporting Variants
SamplesHGDP00456
Known GenesCYCS
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)nssv2438556
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