A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1825232



Internal ID17868160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235737903..235740087hg38UCSC Ensembl
Innerchr1:235901203..235903387hg19UCSC Ensembl
Innerchr1:233967826..233970010hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382185
hg192185
hg182185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945383
Supporting Variants
SamplesHGDP01284
Known GenesLYST
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)nssv1825232
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