A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946929



Internal ID18247093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148561960..148563085hg38UCSC Ensembl
Innerchr1:148297053..148298178hg19UCSC Ensembl
Innerchr1:146663677..146664802hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381126
hg191126
hg181126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2597789, nssv2597739, nssv2597736, nssv2597795, nssv2597738, nssv2597797, nssv2597791, nssv2597733, nssv2597798, nssv2597734, nssv2597793, nssv2597790, nssv2597731, nssv2597796, nssv2597792, nssv2597732, nssv2597737, nssv2597730, nssv2597794, nssv2597735
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)nsv946929
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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