A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960856



Internal ID18249417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49031366..49033751hg38UCSC Ensembl
Innerchr19:49534623..49537008hg19UCSC Ensembl
Innerchr19:54226435..54228820hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382386
hg192386
hg182386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2154442, nssv2154446, nssv2154440, nssv2154438, nssv2154447, nssv2154444, nssv2154441, nssv2154445, nssv2154439, nssv2154443
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCGB2, SNAR-G2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960856
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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