A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947055



Internal ID18593905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223901209..223907430hg38UCSC Ensembl
Innerchr1:224088911..224095132hg19UCSC Ensembl
Innerchr1:222155534..222161755hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386222
hg196222
hg186222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2603942, nssv2603945, nssv2603948, nssv2603943, nssv2603946, nssv2603944, nssv2603949, nssv2603941, nssv2603947, nssv2603940
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)nsv947055
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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