A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972948



Internal ID18261478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46003774..46009940hg38UCSC Ensembl
Innerchr11:46025325..46031491hg19UCSC Ensembl
Innerchr11:45981901..45988067hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386167
hg196167
hg186167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764118
SamplesHGDP00998
Known GenesPHF21A
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972948
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