A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969372



Internal ID18604599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29573555..29574772hg38UCSC Ensembl
Innerchr6:29541332..29542549hg19UCSC Ensembl
Innerchr6:29649311..29650528hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381218
hg191218
hg181218
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2401897, nssv2401889, nssv2401893, nssv2401895, nssv2401891, nssv2401892, nssv2401894, nssv2401888, nssv2401890, nssv2401896
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969372
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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