A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946576



Internal ID18593426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201970571..201978947hg38UCSC Ensembl
Innerchr1:201939699..201948075hg19UCSC Ensembl
Innerchr1:200206322..200214698hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg388377
hg198377
hg188377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1811544, nssv1811546, nssv1811547, nssv1811549, nssv1811545, nssv1811550, nssv1811548, nssv1811552, nssv1811553, nssv1811551
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTIMM17A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946576
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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