A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2192049



Internal ID17799499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106204043..106204845hg38UCSC Ensembl
Innerchr2:106820499..106821301hg19UCSC Ensembl
Innerchr2:106186931..106187733hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38803
hg19803
hg18803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961847
Supporting Variants
SamplesHGDP00778
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2192049
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