A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982216



Internal ID18617411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37489354..37491832hg38UCSC Ensembl
Innerchr9:37489351..37491829hg19UCSC Ensembl
Innerchr9:37479351..37481829hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg382479
hg192479
hg182479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2529253, nssv2529255, nssv2529248, nssv2529252, nssv2529256, nssv2529251, nssv2529257, nssv2529250, nssv2529249, nssv2529254
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOLR1E
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982216
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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