A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945741



Internal ID18245906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1007194..1092619hg38UCSC Ensembl
Innerchr1:942574..1027999hg19UCSC Ensembl
Innerchr1:932437..1017862hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3885426
hg1985426
hg1885426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1749397, nssv1749390, nssv1749398, nssv1749393, nssv1749388, nssv1749391, nssv1749392, nssv1749396, nssv1749389, nssv1749395
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesAGRN, C1orf159, ISG15, RNF223
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945741
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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