A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946105



Internal ID18592955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103553664..103557982hg38UCSC Ensembl
Innerchr1:104096286..104100604hg19UCSC Ensembl
Innerchr1:103897809..103902127hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384319
hg194319
hg184319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1779839, nssv1779836, nssv1779835, nssv1779838, nssv1779834, nssv1779837, nssv1779840, nssv1779833, nssv1779841, nssv1779832
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAMY2B, RNPC3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946105
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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