A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945990



Internal ID18246154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68475592..68477428hg38UCSC Ensembl
Innerchr1:68941275..68943111hg19UCSC Ensembl
Innerchr1:68713863..68715699hg18UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg381837
hg191837
hg181837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771377, nssv1771385, nssv1771378, nssv1771382, nssv1771380, nssv1771376, nssv1771383, nssv1771381, nssv1771384, nssv1771379
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDEPDC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945990
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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