A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2443874



Internal ID17876621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38655128..38656873hg38UCSC Ensembl
Innerchr7:38694728..38696473hg19UCSC Ensembl
Innerchr7:38661253..38662998hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381746
hg191746
hg181746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966781
Supporting Variants
SamplesHGDP01307
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)nssv2443874
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