A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948223



Internal ID18595069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125886503..125915974hg38UCSC Ensembl
Innerchr10:127575072..127604543hg19UCSC Ensembl
Innerchr10:127565062..127594533hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3829472
hg1929472
hg1829472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1869654, nssv1869651, nssv1869647, nssv1869653, nssv1869652, nssv1869650, nssv1869649, nssv1869648, nssv1869646, nssv1869655
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFANK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948223
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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