A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961234



Internal ID18596480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50606378..50623109hg38UCSC Ensembl
Innerchr19:51109635..51126366hg19UCSC Ensembl
Innerchr19:55801447..55818178hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3816732
hg1916732
hg1816732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2154140, nssv2154136, nssv2154132, nssv2154135, nssv2154138, nssv2154133, nssv2154134, nssv2154131, nssv2154139, nssv2154137
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSYT3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961234
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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