A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2046006



Internal ID17519302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15408442..15420478hg38UCSC Ensembl
Innerchr16:15502299..15514335hg19UCSC Ensembl
Innerchr16:15409800..15421836hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3812037
hg1912037
hg1812037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974763
Supporting Variants
SamplesHGDP01284
Known GenesMPV17L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2046006
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