A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945480



Internal ID18245645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248649928..248651138hg38UCSC Ensembl
Innerchr1:248813229..248814439hg19UCSC Ensembl
Innerchr1:246879852..246881062hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381211
hg191211
hg181211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1829369, nssv1829367, nssv1829374, nssv1829371, nssv1829373, nssv1829370, nssv1829375, nssv1829368, nssv1829376, nssv1829372
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesOR2T27
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945480
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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