A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1758767



Internal ID17414969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:28742628..28743850hg38UCSC Ensembl
Innerchr1:29069140..29070362hg19UCSC Ensembl
Innerchr1:28941727..28942949hg18UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945857
Supporting Variants
SamplesHGDP00542
Known GenesYTHDF2
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)nssv1758767
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