A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978785



Internal ID18613988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19587714..19588618hg38UCSC Ensembl
Innerchr19:19698523..19699427hg19UCSC Ensembl
Innerchr19:19559523..19560427hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38905
hg19905
hg18905
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2137337, nssv2137331, nssv2137338, nssv2137332, nssv2137340, nssv2137335, nssv2137333, nssv2137339, nssv2137336, nssv2137334
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPBX4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978785
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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