A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946170



Internal ID18593020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116713656..116717751hg38UCSC Ensembl
Innerchr1:117256278..117260373hg19UCSC Ensembl
Innerchr1:117057801..117061896hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg384096
hg194096
hg184096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1784438, nssv1784437, nssv1784440, nssv1784441, nssv1784444, nssv1784436, nssv1784445, nssv1784442, nssv1784439, nssv1784443
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)nsv946170
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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