A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946137



Internal ID18246301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110346115..110346825hg38UCSC Ensembl
Innerchr1:110888737..110889447hg19UCSC Ensembl
Innerchr1:110690260..110690970hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1780844, nssv1780835, nssv1780838, nssv1780841, nssv1780836, nssv1780843, nssv1780837, nssv1780840, nssv1780839, nssv1780842
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRBM15
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946137
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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