A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2029471



Internal ID17802149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:68833483..68835514hg38UCSC Ensembl
Innerchr15:69125822..69127853hg19UCSC Ensembl
Innerchr15:66912876..66914907hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382032
hg192032
hg182032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976946
Supporting Variants
SamplesHGDP00778
Known GenesMIR548H4
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)nssv2029471
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