A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946551



Internal ID18593401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192994105..192996520hg38UCSC Ensembl
Innerchr1:192963235..192965650hg19UCSC Ensembl
Innerchr1:191229858..191232273hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1809175, nssv1809172, nssv1809167, nssv1809171, nssv1809176, nssv1809168, nssv1809169, nssv1809170, nssv1809174, nssv1809173
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)nsv946551
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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