A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948008



Internal ID18594854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50740510..50776561hg38UCSC Ensembl
Innerchr10:52500270..52536321hg19UCSC Ensembl
Innerchr10:52170276..52206327hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3836052
hg1936052
hg1836052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1849935, nssv1849931, nssv1849936, nssv1849938, nssv1849937, nssv1849933, nssv1849932, nssv1849934, nssv1849940, nssv1849939
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesASAH2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948008
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer