A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946350



Internal ID18593200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143431401..143456495hg38UCSC Ensembl
Innerchr1:148896491..148921596hg19UCSC Ensembl
Innerchr1:147163115..147188220hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3825095
hg1925106
hg1825106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1794976, nssv1794977, nssv1794981, nssv1794985, nssv1794979, nssv1794984, nssv1794982, nssv1794978, nssv1794983, nssv1794980
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946350
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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