A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1941069



Internal ID17847138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93399207..93401838hg38UCSC Ensembl
Innerchr12:93792983..93795614hg19UCSC Ensembl
Innerchr12:92317114..92319745hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg382632
hg192632
hg182632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv973103
Supporting Variants
SamplesHGDP01029
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1941069
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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