A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946758



Internal ID18246922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148561484..148562782hg38UCSC Ensembl
Innerchr1:145313721..145314999hg19UCSC Ensembl
Innerchr1:144025078..144026356hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381299
hg191279
hg181279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2581484, nssv2581518, nssv2581493, nssv2581525, nssv2581524, nssv2581522, nssv2581487, nssv2581523, nssv2581489, nssv2581519, nssv2581486, nssv2581526, nssv2581521, nssv2581492, nssv2581488, nssv2581520, nssv2581491, nssv2581527, nssv2581490, nssv2581485
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946758
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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