A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978768



Internal ID18613971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8895685..8896739hg38UCSC Ensembl
Innerchr19:9006361..9007415hg19UCSC Ensembl
Innerchr19:8867361..8868415hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381055
hg191055
hg181055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2129657, nssv2129656, nssv2129648, nssv2129655, nssv2129650, nssv2129652, nssv2129649, nssv2129651, nssv2129654, nssv2129653
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMUC16
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978768
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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