A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2040073



Internal ID17800459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2100487..2136229hg38UCSC Ensembl
Innerchr16:2150488..2186230hg19UCSC Ensembl
Innerchr16:2090489..2126231hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3835743
hg1935743
hg1835743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984250
Supporting Variants
SamplesHGDP00778
Known GenesMIR3180-5, MIR4516, MIR6511B-1, PKD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2040073
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