A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945315



Internal ID18592166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223888517..223897635hg38UCSC Ensembl
Innerchr1:224076219..224085337hg19UCSC Ensembl
Innerchr1:222142842..222151960hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg389119
hg199119
hg189119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2603912, nssv2603908, nssv2603904, nssv2603906, nssv2603913, nssv2603907, nssv2603909, nssv2603910, nssv2603911, nssv2603905
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945315
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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