A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1779614



Internal ID17466484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103740039..103766743hg38UCSC Ensembl
Innerchr1:104282661..104309365hg19UCSC Ensembl
Innerchr1:104084184..104110888hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3826705
hg1926705
hg1826705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946112
Supporting Variants
SamplesHGDP00927
Known GenesAMY1A, AMY1B, AMY1C
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)nssv1779614
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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