A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947999



Internal ID18248159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49973091..50064121hg38UCSC Ensembl
Innerchr10:51732851..51823881hg19UCSC Ensembl
Innerchr10:51402857..51493887hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3891031
hg1991031
hg1891031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1848781, nssv1848775, nssv1848784, nssv1848778, nssv1848777, nssv1848783, nssv1848779, nssv1848782, nssv1848776, nssv1848780
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAGAP6, FLJ31813
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947999
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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