A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1789764



Internal ID17392338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145868019..145869044hg38UCSC Ensembl
Innerchr1:145566042..145567067hg19UCSC Ensembl
Innerchr1:144277399..144278424hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381026
hg191026
hg181026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946265
Supporting Variants
SamplesHGDP00456
Known GenesANKRD35, LOC100288142, NBPF10
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)nssv1789764
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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