A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962997



Internal ID18598239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8193280..8195462hg38UCSC Ensembl
Innerchr19:8258164..8260346hg19UCSC Ensembl
Innerchr19:8164164..8166346hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382183
hg192183
hg182183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2130370, nssv2130371, nssv2130372, nssv2130376, nssv2130373, nssv2130379, nssv2130377, nssv2130375, nssv2130378, nssv2130374
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962997
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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