A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945890



Internal ID18592740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39303138..39309531hg38UCSC Ensembl
Innerchr1:39768810..39775203hg19UCSC Ensembl
Innerchr1:39541397..39547790hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg386394
hg196394
hg186394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1759511, nssv1759518, nssv1759513, nssv1759512, nssv1759514, nssv1759515, nssv1759516, nssv1759519, nssv1759510, nssv1759517
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMACF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945890
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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