A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947944



Internal ID18248104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46217970..46221963hg38UCSC Ensembl
Innerchr10:47589206..47593199hg19UCSC Ensembl
Innerchr10:47059212..47063205hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383994
hg193994
hg183994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1854599, nssv1854604, nssv1854600, nssv1854605, nssv1854597, nssv1854596, nssv1854601, nssv1854603, nssv1854602, nssv1854598
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesANTXRLP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947944
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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