A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946042



Internal ID18592892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:87044065..87045563hg38UCSC Ensembl
Innerchr1:87509748..87511246hg19UCSC Ensembl
Innerchr1:87282336..87283834hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1773901, nssv1773898, nssv1773904, nssv1773897, nssv1773899, nssv1773895, nssv1773900, nssv1773896, nssv1773903, nssv1773902
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHS2ST1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946042
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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