A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971973



Internal ID18607189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3971628..3974626hg38UCSC Ensembl
Innerchr11:3992858..3995856hg19UCSC Ensembl
Innerchr11:3949434..3952432hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1872091, nssv1872082, nssv1872086, nssv1872087, nssv1872090, nssv1872085, nssv1872083, nssv1872088, nssv1872089, nssv1872084
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTIM1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971973
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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