A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2054530



Internal ID17838779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29126548..29149179hg38UCSC Ensembl
Innerchr16:29137869..29160500hg19UCSC Ensembl
Innerchr16:29045370..29068001hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3822632
hg1922632
hg1822632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974794
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2054530
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