A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946595



Internal ID18246759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203795145..203796551hg38UCSC Ensembl
Innerchr1:203764273..203765679hg19UCSC Ensembl
Innerchr1:202030896..202032302hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381407
hg191407
hg181407
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813341, nssv1813345, nssv1813347, nssv1813342, nssv1813344, nssv1813346, nssv1813339, nssv1813348, nssv1813340, nssv1813343
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZC3H11A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946595
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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