A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978811



Internal ID18267328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37259065..37329615hg38UCSC Ensembl
Innerchr19:37749967..37820517hg19UCSC Ensembl
Innerchr19:42441807..42512357hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3870551
hg1970551
hg1870551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2147918, nssv2147922, nssv2147926, nssv2147925, nssv2147920, nssv2147924, nssv2147923, nssv2147921, nssv2147917, nssv2147919
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC284412
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978811
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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