A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1813048



Internal ID17826443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202424909..202427123hg38UCSC Ensembl
Innerchr1:202394037..202396251hg19UCSC Ensembl
Innerchr1:200660660..200662874hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382215
hg192215
hg182215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv946581
Supporting Variants
SamplesHGDP00998
Known GenesPPP1R12B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1813048
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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