A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978153



Internal ID18266672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56429120..56430312hg38UCSC Ensembl
Innerchr16:56463032..56464224hg19UCSC Ensembl
Innerchr16:55020533..55021725hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381193
hg191193
hg181193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2063237, nssv2063245, nssv2063241, nssv2063244, nssv2063239, nssv2063243, nssv2063246, nssv2063242, nssv2063240, nssv2063238
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNUDT21
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978153
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