A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945308



Internal ID18592159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222467824..222477729hg38UCSC Ensembl
Innerchr1:222641166..222651071hg19UCSC Ensembl
Innerchr1:220707789..220717694hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg389906
hg199906
hg189906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2605244, nssv2605242, nssv2605237, nssv2605246, nssv2605239, nssv2605243, nssv2605241, nssv2605238, nssv2605245, nssv2605240
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)nsv945308
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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