A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946504



Internal ID18593354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171683503..171684641hg38UCSC Ensembl
Innerchr1:171652643..171653781hg19UCSC Ensembl
Innerchr1:169919266..169920404hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg381139
hg191139
hg181139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1807507, nssv1807506, nssv1807509, nssv1807511, nssv1807505, nssv1807504, nssv1807512, nssv1807513, nssv1807508, nssv1807510
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)nsv946504
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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