A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946388



Internal ID18593238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151950176..151950676hg38UCSC Ensembl
Innerchr1:151922652..151923152hg19UCSC Ensembl
Innerchr1:150189276..150189776hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1796844, nssv1796852, nssv1796850, nssv1796847, nssv1796845, nssv1796849, nssv1796853, nssv1796846, nssv1796851, nssv1796848
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)nsv946388
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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