A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946431



Internal ID18593281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157534459..157541091hg38UCSC Ensembl
Innerchr1:157504249..157510881hg19UCSC Ensembl
Innerchr1:155770873..155777505hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386633
hg196633
hg186633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1800847, nssv1800849, nssv1800854, nssv1800848, nssv1800846, nssv1800855, nssv1800853, nssv1800851, nssv1800852, nssv1800850
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCRL5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946431
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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