A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2194122



Internal ID17786156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100108786..100109905hg38UCSC Ensembl
Innerchr2:100725248..100726367hg19UCSC Ensembl
Innerchr2:100091680..100092799hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381120
hg191120
hg181120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv979074
Supporting Variants
SamplesHGDP00665
Known GenesAFF3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2194122
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