A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945296



Internal ID18592147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220143864..220144364hg38UCSC Ensembl
Innerchr1:220317206..220317706hg19UCSC Ensembl
Innerchr1:218383829..218384329hg18UCSC Ensembl
Cytoband1q41
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 Variantsnssv1817403, nssv1817401, nssv1817405, nssv1817400, nssv1817396, nssv1817399, nssv1817397, nssv1817402, nssv1817398, nssv1817404
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesIARS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945296
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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