A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946520



Internal ID18246684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179035066..179036705hg38UCSC Ensembl
Innerchr1:179004201..179005840hg19UCSC Ensembl
Innerchr1:177270824..177272463hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381640
hg191640
hg181640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1808058, nssv1808063, nssv1808057, nssv1808064, nssv1808059, nssv1808060, nssv1808062, nssv1808065, nssv1808061, nssv1808056
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM20B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946520
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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