A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968749



Internal ID18603977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114324831..114335180hg38UCSC Ensembl
Innerchr9:117087111..117097460hg19UCSC Ensembl
Innerchr9:116126932..116137281hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3810350
hg1910350
hg1810350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2565342, nssv2565339, nssv2565347, nssv2565343, nssv2565348, nssv2565340, nssv2565341, nssv2565346, nssv2565344, nssv2565345
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAKNA, ORM1, ORM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968749
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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