A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1777923



Internal ID17449867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93190813..93191843hg38UCSC Ensembl
Innerchr1:93656370..93657400hg19UCSC Ensembl
Innerchr1:93428958..93429988hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381031
hg191031
hg181031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946080
Supporting Variants
SamplesHGDP00778
Known GenesCCDC18
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)nssv1777923
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