A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1779938



Internal ID17813214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103569707..103579635hg38UCSC Ensembl
Innerchr1:104112329..104122257hg19UCSC Ensembl
Innerchr1:103913852..103923780hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg389929
hg199929
hg189929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946106
Supporting Variants
SamplesHGDP00927
Known GenesACTG1P4, AMY2B
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)nssv1779938
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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