A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2493372



Internal ID17473751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7892673..7913750hg38UCSC Ensembl
Innerchr8:7750195..7771272hg19UCSC Ensembl
Innerchr8:7787605..7808682hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3821078
hg1921078
hg1821078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv971627
Supporting Variants
SamplesHGDP00927
Known GenesDEFB4A
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)nssv2493372
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