A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963045



Internal ID18598287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38789906..38792508hg38UCSC Ensembl
Innerchr19:39280546..39283148hg19UCSC Ensembl
Innerchr19:43972386..43974988hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382603
hg192603
hg182603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2148417, nssv2148413, nssv2148415, nssv2148418, nssv2148412, nssv2148410, nssv2148416, nssv2148409, nssv2148414, nssv2148411
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLGALS7B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963045
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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