A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946568



Internal ID18593418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198197346..198198187hg38UCSC Ensembl
Innerchr1:198166476..198167317hg19UCSC Ensembl
Innerchr1:196433099..196433940hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38842
hg19842
hg18842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1812084, nssv1812089, nssv1812087, nssv1812082, nssv1812086, nssv1812083, nssv1812085, nssv1812090, nssv1812081, nssv1812088
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNEK7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946568
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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