A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946754



Internal ID18246918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148579372..148596266hg38UCSC Ensembl
Innerchr1:145292857..145309765hg19UCSC Ensembl
Innerchr1:144004214..144021122hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3816895
hg1916909
hg1816909
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2580646, nssv2580639, nssv2580645, nssv2580644, nssv2580641, nssv2580642, nssv2580638, nssv2580640, nssv2580637, nssv2580643
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946754
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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