A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945362



Internal ID18592213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:229564860..229572994hg38UCSC Ensembl
Innerchr1:229700607..229708741hg19UCSC Ensembl
Innerchr1:227767230..227775364hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg388135
hg198135
hg188135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1823162, nssv1823163, nssv1823156, nssv1823155, nssv1823160, nssv1823161, nssv1823157, nssv1823164, nssv1823159, nssv1823158
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)nsv945362
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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