A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978058



Internal ID18266577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29513466..29531888hg38UCSC Ensembl
Innerchr16:29524787..29543209hg19UCSC Ensembl
Innerchr16:29432288..29450710hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3818423
hg1918423
hg1818423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2638430, nssv2638431, nssv2638423, nssv2638425, nssv2638427, nssv2638428, nssv2638426, nssv2638422, nssv2638429, nssv2638424
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC440354
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978058
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