A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1813037



Internal ID17793457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202380952..202411345hg38UCSC Ensembl
Innerchr1:202350080..202380473hg19UCSC Ensembl
Innerchr1:200616703..200647096hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3830394
hg1930394
hg1830394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946579
Supporting Variants
SamplesHGDP00778
Known GenesPPP1R12B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1813037
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