A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946529



Internal ID18246693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181048790..181050587hg38UCSC Ensembl
Innerchr1:181017926..181019723hg19UCSC Ensembl
Innerchr1:179284549..179286346hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809546, nssv1809548, nssv1809552, nssv1809550, nssv1809551, nssv1809549, nssv1809547, nssv1809543, nssv1809544, nssv1809545
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946529
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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