A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946885



Internal ID18247049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148539354..148540068hg38UCSC Ensembl
Innerchr1:148264609..148265335hg19UCSC Ensembl
Innerchr1:146631233..146631959hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38715
hg19727
hg18727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2593118, nssv2593117, nssv2593124, nssv2593179, nssv2593120, nssv2593173, nssv2593122, nssv2593121, nssv2593175, nssv2593182, nssv2593178, nssv2593116, nssv2593174, nssv2593177, nssv2593123, nssv2593181, nssv2593176, nssv2593115, nssv2593119, nssv2593180
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)nsv946885
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer