A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978827



Internal ID18614030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44080690..44085969hg38UCSC Ensembl
Innerchr19:44584843..44590122hg19UCSC Ensembl
Innerchr19:49276683..49281962hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg385280
hg195280
hg185280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2151639, nssv2151640, nssv2151644, nssv2151643, nssv2151637, nssv2151638, nssv2151642, nssv2151641, nssv2151635, nssv2151636
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF284
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978827
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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