A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946530



Internal ID18593380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181422857..181424168hg38UCSC Ensembl
Innerchr1:181391993..181393304hg19UCSC Ensembl
Innerchr1:179658616..179659927hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381312
hg191312
hg181312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809644, nssv1809646, nssv1809645, nssv1809648, nssv1809641, nssv1809643, nssv1809642, nssv1809640, nssv1809647, nssv1809649
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946530
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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