A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961177



Internal ID18596423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12096099..12097457hg38UCSC Ensembl
Innerchr19:12206914..12208272hg19UCSC Ensembl
Innerchr19:12067914..12069272hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2133245, nssv2133246, nssv2133243, nssv2133244, nssv2133250, nssv2133248, nssv2133241, nssv2133242, nssv2133249, nssv2133247
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF788
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961177
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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