A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2199397



Internal ID17819544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113414184..113434787hg38UCSC Ensembl
Innerchr2:114171761..114192364hg19UCSC Ensembl
Innerchr2:113888231..113908834hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3820604
hg1920604
hg1820604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979104
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2199397
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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