A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946880



Internal ID18247044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148535567..148536161hg38UCSC Ensembl
Innerchr1:148260800..148261394hg19UCSC Ensembl
Innerchr1:146627424..146628018hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38595
hg19595
hg18595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2594744, nssv2594752, nssv2594753, nssv2594746, nssv2594745, nssv2594751, nssv2594749, nssv2594811, nssv2594803, nssv2594804, nssv2594807, nssv2594806, nssv2594747, nssv2594802, nssv2594808, nssv2594810, nssv2594809, nssv2594805, nssv2594748, nssv2594750
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)nsv946880
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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