A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961178



Internal ID18249738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12134702..12136032hg38UCSC Ensembl
Innerchr19:12245517..12246847hg19UCSC Ensembl
Innerchr19:12106517..12107847hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381331
hg191331
hg181331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2132810, nssv2132808, nssv2132809, nssv2132814, nssv2132807, nssv2132815, nssv2132806, nssv2132813, nssv2132812, nssv2132811
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZNF20, ZNF625-ZNF20
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961178
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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