A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946718



Internal ID18593568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145309032..145309689hg38UCSC Ensembl
Innerchr1:144207618..144208277hg19UCSC Ensembl
Innerchr1:142918975..142919634hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38658
hg19660
hg18660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2580278, nssv2580307, nssv2580271, nssv2580304, nssv2580269, nssv2580275, nssv2580272, nssv2580270, nssv2580308, nssv2580302, nssv2580273, nssv2580306, nssv2580303, nssv2580277, nssv2580305, nssv2580276, nssv2580310, nssv2580274, nssv2580311, nssv2580309
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946718
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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