A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978831



Internal ID18614034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46558604..46560632hg38UCSC Ensembl
Innerchr19:47061861..47063889hg19UCSC Ensembl
Innerchr19:51753701..51755729hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382029
hg192029
hg182029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2153619, nssv2153617, nssv2153614, nssv2153618, nssv2153620, nssv2153621, nssv2153615, nssv2153613, nssv2153612, nssv2153616
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPPP5D1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978831
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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