A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978761



Internal ID18267278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6072812..6073859hg38UCSC Ensembl
Innerchr19:6072823..6073870hg19UCSC Ensembl
Innerchr19:6023823..6024870hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381048
hg191048
hg181048
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2128006, nssv2128010, nssv2128011, nssv2128007, nssv2128003, nssv2128002, nssv2128009, nssv2128004, nssv2128008, nssv2128005
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRFX2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978761
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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