A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946596



Internal ID18246760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203802000..203803024hg38UCSC Ensembl
Innerchr1:203771128..203772152hg19UCSC Ensembl
Innerchr1:202037751..202038775hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381025
hg191025
hg181025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813423, nssv1813426, nssv1813424, nssv1813427, nssv1813425, nssv1813422, nssv1813428, nssv1813419, nssv1813421, nssv1813420
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)nsv946596
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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