A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947949



Internal ID18248109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46327323..46382548hg38UCSC Ensembl
Innerchr10:47698559..47753807hg19UCSC Ensembl
Innerchr10:47168565..47223813hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3855226
hg1955249
hg1855249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1854924, nssv1854931, nssv1854927, nssv1854930, nssv1854932, nssv1854926, nssv1854933, nssv1854925, nssv1854929, nssv1854928
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesANTXRL, ANXA8L1, ANXA8L2, FAM25B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947949
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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