A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946542



Internal ID18593392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186458069..186460969hg38UCSC Ensembl
Innerchr1:186427201..186430101hg19UCSC Ensembl
Innerchr1:184693824..184696724hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg382901
hg192901
hg182901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1810528, nssv1810525, nssv1810531, nssv1810533, nssv1810527, nssv1810526, nssv1810532, nssv1810530, nssv1810534, nssv1810529
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR548F1, PDC
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946542
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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