A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946161



Internal ID18593011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115564613..115566759hg38UCSC Ensembl
Innerchr1:116107234..116109380hg19UCSC Ensembl
Innerchr1:115908757..115910903hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg382147
hg192147
hg182147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1783743, nssv1783749, nssv1783750, nssv1783742, nssv1783748, nssv1783747, nssv1783751, nssv1783746, nssv1783744, nssv1783745
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)nsv946161
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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