A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962218



Internal ID18250776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71611299..71693703hg38UCSC Ensembl
Innerchr16:71645202..71727606hg19UCSC Ensembl
Innerchr16:70202703..70285107hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3882405
hg1982405
hg1882405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2759678
SamplesHGDP00927
Known GenesMARVELD3, PHLPP2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962218
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