A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984413



Internal ID18272914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30250999..30272695hg38UCSC Ensembl
Innerchr16:30262320..30284016hg19UCSC Ensembl
Innerchr16:30169821..30191517hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3821697
hg1921697
hg1821697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2637906, nssv2637903, nssv2637907, nssv2637902, nssv2637900, nssv2637904, nssv2637901, nssv2637908, nssv2637905, nssv2637899
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC440354, LOC595101
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984413
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer