A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974084



Internal ID18262611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41131135..41132233hg38UCSC Ensembl
Innerchr13:41705271..41706369hg19UCSC Ensembl
Innerchr13:40603271..40604369hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1961328, nssv1961331, nssv1961332, nssv1961330, nssv1961324, nssv1961329, nssv1961325, nssv1961327, nssv1961333, nssv1961326
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKBTBD6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974084
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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