A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978216



Internal ID18613421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29414213..29429907hg38UCSC Ensembl
Innerchr16:29425534..29441228hg19UCSC Ensembl
Innerchr16:29333035..29348729hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3815695
hg1915695
hg1815695
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2638784, nssv2638780, nssv2638783, nssv2638777, nssv2638781, nssv2638778, nssv2638782, nssv2638786, nssv2638785, nssv2638779
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978216
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