A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946925



Internal ID18247089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148558557..148559883hg38UCSC Ensembl
Innerchr1:148293625..148294962hg19UCSC Ensembl
Innerchr1:146660249..146661586hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381327
hg191338
hg181338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2598586, nssv2598582, nssv2598580, nssv2598587, nssv2598589, nssv2598584, nssv2598581, nssv2598585, nssv2598583, nssv2598588
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)nsv946925
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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