A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946812



Internal ID18593662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145325719..145331124hg38UCSC Ensembl
Innerchr1:145360860..145361663hg19UCSC Ensembl
Innerchr1:144072217..144073020hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385406
hg19804
hg18804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2589895, nssv2589866, nssv2589901, nssv2589862, nssv2589900, nssv2589893, nssv2589864, nssv2589896, nssv2589898, nssv2589861, nssv2589899, nssv2589858, nssv2589894, nssv2589865, nssv2589860, nssv2589892, nssv2589859, nssv2589867, nssv2589863, nssv2589897
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)nsv946812
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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