A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946112



Internal ID18592962
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 StatusM
Merged Variants
Supporting Variantsnssv1779606, nssv1779607, nssv1779608, nssv1779605, nssv1779610, nssv1779613, nssv1779609, nssv1779612, nssv1779614, nssv1779611
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)nsv946112
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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