A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945358



Internal ID18592209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229037484..229045903hg38UCSC Ensembl
Innerchr1:229173231..229181650hg19UCSC Ensembl
Innerchr1:227239854..227248273hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388420
hg198420
hg188420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1822853, nssv1822859, nssv1822851, nssv1822858, nssv1822852, nssv1822856, nssv1822857, nssv1822855, nssv1822854, nssv1822850
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)nsv945358
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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