A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945898



Internal ID18592748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40127531..40132455hg38UCSC Ensembl
Innerchr1:40593203..40598127hg19UCSC Ensembl
Innerchr1:40365790..40370714hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384925
hg194925
hg184925
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1760513, nssv1760515, nssv1760519, nssv1760514, nssv1760518, nssv1760516, nssv1760512, nssv1760517, nssv1760511, nssv1760520
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)nsv945898
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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