A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946907



Internal ID18593757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145336869..145338161hg38UCSC Ensembl
Innerchr1:148276500..148277917hg19UCSC Ensembl
Innerchr1:146643124..146644541hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381293
hg191418
hg181418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2596007, nssv2596002, nssv2596001, nssv2596004, nssv2596000, nssv2596006, nssv2596005, nssv2596008, nssv2596009, nssv2596003
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946907
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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