A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1790321



Internal ID17434094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:146987843..147036027hg38UCSC Ensembl
Innerchr1:146459384..146507583hg19UCSC Ensembl
Innerchr1:144925607..144974207hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3848185
hg1948200
hg1848601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946295
Supporting Variants
SamplesHGDP00665
Known GenesLOC100288142, LOC101929780, LOC728989, NBPF10, NBPF12
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)nssv1790321
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