A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2128787



Internal ID17733720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2670325..2674350hg38UCSC Ensembl
Innerchr19:2670323..2674348hg19UCSC Ensembl
Innerchr19:2621323..2625348hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384026
hg194026
hg184026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960771
Supporting Variants
SamplesHGDP00456
Known GenesGNG7
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)nssv2128787
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