A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945941



Internal ID18592791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51700113..51709274hg38UCSC Ensembl
Innerchr1:52165785..52174946hg19UCSC Ensembl
Innerchr1:51938373..51947534hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg389162
hg199162
hg189162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1767984, nssv1767985, nssv1767980, nssv1767989, nssv1767981, nssv1767986, nssv1767982, nssv1767987, nssv1767988, nssv1767983
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOSBPL9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945941
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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