A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948065



Internal ID18594911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:73200806..73201806hg38UCSC Ensembl
Innerchr10:74960564..74961564hg19UCSC Ensembl
Innerchr10:74630570..74631570hg18UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1858459, nssv1858457, nssv1858461, nssv1858455, nssv1858453, nssv1858458, nssv1858454, nssv1858460, nssv1858452, nssv1858456
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM149B1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948065
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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