A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2414765



Internal ID17803578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:75317623..75320879hg38UCSC Ensembl
Innerchr6:76027339..76030595hg19UCSC Ensembl
Innerchr6:76084059..76087315hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383257
hg193257
hg183257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981158
Supporting Variants
SamplesHGDP00778
Known GenesFILIP1
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)nssv2414765
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