A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947984



Internal ID18248144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49896999..49909512hg38UCSC Ensembl
Innerchr10:51105045..51117558hg19UCSC Ensembl
Innerchr10:50775051..50787564hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3812514
hg1912514
hg1812514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1846937, nssv1846936, nssv1846938, nssv1846933, nssv1846935, nssv1846932, nssv1846939, nssv1846931, nssv1846930, nssv1846934
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPARG
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947984
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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