A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946110



Internal ID18592960
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 StatusM
Merged Variants
Supporting Variantsnssv1778804, nssv1778801, nssv1778795, nssv1778799, nssv1778797, nssv1778802, nssv1778800, nssv1778798, nssv1778803, nssv1778796
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946110
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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