A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946131



Internal ID18592981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109591278..109592114hg38UCSC Ensembl
Innerchr1:110133900..110134736hg19UCSC Ensembl
Innerchr1:109935423..109936259hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38837
hg19837
hg18837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1781180, nssv1781183, nssv1781185, nssv1781179, nssv1781178, nssv1781181, nssv1781184, nssv1781177, nssv1781182, nssv1781186
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGNAI3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946131
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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