A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960846



Internal ID18596093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41806463..41808062hg38UCSC Ensembl
Innerchr19:42310504..42312100hg19UCSC Ensembl
Innerchr19:47002344..47003940hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381600
hg191597
hg181597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2150282, nssv2150277, nssv2150278, nssv2150279, nssv2150285, nssv2150280, nssv2150284, nssv2150276, nssv2150281, nssv2150283
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEACAM3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960846
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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