A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946005



Internal ID18592855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77772023..77779041hg38UCSC Ensembl
Innerchr1:78237708..78244726hg19UCSC Ensembl
Innerchr1:78010296..78017314hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387019
hg197019
hg187019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771215, nssv1771214, nssv1771220, nssv1771217, nssv1771218, nssv1771213, nssv1771219, nssv1771216, nssv1771221, nssv1771222
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)nsv946005
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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