A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946599



Internal ID18593449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203852388..203854379hg38UCSC Ensembl
Innerchr1:203821516..203823507hg19UCSC Ensembl
Innerchr1:202088139..202090130hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381992
hg191992
hg181992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1814689, nssv1814691, nssv1814683, nssv1814688, nssv1814690, nssv1814684, nssv1814682, nssv1814686, nssv1814685, nssv1814687
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZC3H11A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946599
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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