A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2455577



Internal ID17875312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65074517..65081191hg38UCSC Ensembl
Innerchr7:64534895..64541569hg19UCSC Ensembl
Innerchr7:64172330..64179004hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg386675
hg196675
hg186675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966821
Supporting Variants
SamplesHGDP01284
Known GenesCCT6P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2455577
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