A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946935



Internal ID18247099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148566412..148567686hg38UCSC Ensembl
Innerchr1:148301535..148302823hg19UCSC Ensembl
Innerchr1:146668159..146669447hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381275
hg191289
hg181289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2597042, nssv2598468, nssv2597041, nssv2598467, nssv2598465, nssv2597044, nssv2597040, nssv2597043, nssv2597048, nssv2598466, nssv2597039, nssv2598474, nssv2598470, nssv2598471, nssv2597046, nssv2598469, nssv2597045, nssv2598472, nssv2598473, nssv2597047
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)nsv946935
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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