A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963078



Internal ID18598320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54272549..54289938hg38UCSC Ensembl
Innerchr19:54776403..54793793hg19UCSC Ensembl
Innerchr19:59468215..59485605hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817390
hg1917391
hg1817391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2160231, nssv2160226, nssv2160229, nssv2160225, nssv2160230, nssv2160228, nssv2160224, nssv2160223, nssv2160227, nssv2160232
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLILRB2, MIR4752
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963078
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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