A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948130



Internal ID18248290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:88935211..88935821hg38UCSC Ensembl
Innerchr10:90694968..90695578hg19UCSC Ensembl
Innerchr10:90684948..90685558hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38611
hg19611
hg18611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1860924, nssv1860930, nssv1860921, nssv1860928, nssv1860927, nssv1860923, nssv1860922, nssv1860926, nssv1860929, nssv1860925
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACTA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948130
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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