A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946896



Internal ID18247060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148544667..148546759hg38UCSC Ensembl
Innerchr1:148269992..148272106hg19UCSC Ensembl
Innerchr1:146636616..146638730hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382093
hg192115
hg182115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13n82
Supporting Variantsnssv2595599, nssv2595593, nssv2595601, nssv2595600, nssv2595594, nssv2595595, nssv2595596, nssv2595598, nssv2595597, nssv2595592
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)nsv946896
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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