A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960874



Internal ID18596121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55202018..55210379hg38UCSC Ensembl
Innerchr19:55713386..55721747hg19UCSC Ensembl
Innerchr19:60405198..60413559hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388362
hg198362
hg188362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2159013, nssv2159014, nssv2159015, nssv2159012, nssv2159016, nssv2159008, nssv2159010, nssv2159011, nssv2159009, nssv2159017
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTPRH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960874
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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