A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947057



Internal ID18593907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223907430..223911318hg38UCSC Ensembl
Innerchr1:224095132..224099020hg19UCSC Ensembl
Innerchr1:222161755..222165643hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383889
hg193889
hg183889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2603956, nssv2603954, nssv2603957, nssv2603961, nssv2603959, nssv2603958, nssv2603952, nssv2603960, nssv2603955, nssv2603953
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)nsv947057
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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