A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963046



Internal ID18251602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39244930..39248876hg38UCSC Ensembl
Innerchr19:39735570..39739516hg19UCSC Ensembl
Innerchr19:44427410..44431356hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383947
hg193947
hg183947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2148527, nssv2148531, nssv2148526, nssv2148525, nssv2148532, nssv2148530, nssv2148529, nssv2148523, nssv2148528, nssv2148524
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIFNL3, IFNL4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963046
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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