A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946149



Internal ID18592999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113168928..113169539hg38UCSC Ensembl
Innerchr1:113711550..113712161hg19UCSC Ensembl
Innerchr1:113513073..113513684hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38612
hg19612
hg18612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1783120, nssv1783118, nssv1783116, nssv1783121, nssv1783115, nssv1783114, nssv1783113, nssv1783117, nssv1783119, nssv1783112
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946149
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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