A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945930



Internal ID18246094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47496000..47500732hg38UCSC Ensembl
Innerchr1:47961672..47966404hg19UCSC Ensembl
Innerchr1:47734259..47738991hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384733
hg194733
hg184733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1763737, nssv1763735, nssv1763732, nssv1763734, nssv1763741, nssv1763739, nssv1763738, nssv1763733, nssv1763740, nssv1763736
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)nsv945930
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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