A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978823



Internal ID18267340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42577206..42590553hg38UCSC Ensembl
Innerchr19:43081358..43094705hg19UCSC Ensembl
Innerchr19:47773198..47786545hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3813348
hg1913348
hg1813348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2149795, nssv2149802, nssv2149801, nssv2149800, nssv2149799, nssv2149798, nssv2149796, nssv2149793, nssv2149794, nssv2149797
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCEACAM8, LIPE-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978823
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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