A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946293



Internal ID18246457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148216307..148217432hg38UCSC Ensembl
Innerchr1:146146753..146147878hg19UCSC Ensembl
Innerchr1:144858110..144859235hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381126
hg191126
hg181126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1792803, nssv1792801, nssv1792799, nssv1792802, nssv1792797, nssv1792798, nssv1792794, nssv1792796, nssv1792795, nssv1792800
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946293
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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