A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1818048



Internal ID17867840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219588695..219612984hg38UCSC Ensembl
Innerchr1:219762037..219786326hg19UCSC Ensembl
Innerchr1:217828660..217852949hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3824290
hg1924290
hg1824290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945294
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1818048
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