A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962995



Internal ID18251551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5274396..5280369hg38UCSC Ensembl
Innerchr19:5274407..5280380hg19UCSC Ensembl
Innerchr19:5225407..5231380hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385974
hg195974
hg185974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2126936, nssv2126938, nssv2126944, nssv2126937, nssv2126943, nssv2126941, nssv2126940, nssv2126942, nssv2126935, nssv2126939
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTPRS
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962995
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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