A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946948



Internal ID18247112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148574927..148576090hg38UCSC Ensembl
Innerchr1:148311496..148312847hg19UCSC Ensembl
Innerchr1:146678120..146679471hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381164
hg191352
hg181352
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2596994, nssv2596997, nssv2597001, nssv2596995, nssv2596993, nssv2596996, nssv2597000, nssv2596999, nssv2597002, nssv2596998
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946948
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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