A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945482



Internal ID18592333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248916792..248936992hg38UCSC Ensembl
Innerchr1:249210991..249231191hg19UCSC Ensembl
Innerchr1:247177614..247197814hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3820201
hg1920201
hg1820201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1829487, nssv1830720, nssv1829482, nssv1829483, nssv1830722, nssv1829481, nssv1829484, nssv1829486, nssv1830721, nssv1829485
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPGBD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945482
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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