A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946119



Internal ID18246283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108221302..108246099hg38UCSC Ensembl
Innerchr1:108763924..108788721hg19UCSC Ensembl
Innerchr1:108565447..108590244hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824798
hg1924798
hg1824798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1780270, nssv1780276, nssv1780272, nssv1780274, nssv1780279, nssv1780273, nssv1780277, nssv1780271, nssv1780275, nssv1780278
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNBPF4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946119
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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