A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1778802



Internal ID17846350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103655567..103706047hg38UCSC Ensembl
Innerchr1:104198189..104248669hg19UCSC Ensembl
Innerchr1:103999712..104050192hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3850481
hg1950481
hg1850481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946110
Supporting Variants
SamplesHGDP01029
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)nssv1778802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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