A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945590



Internal ID18592441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119841570..119845302hg38UCSC Ensembl
Innerchr1:120384193..120387925hg19UCSC Ensembl
Innerchr1:120185716..120189448hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg383733
hg193733
hg183733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2571993, nssv2571991, nssv2571988, nssv2571992, nssv2571994, nssv2571996, nssv2571989, nssv2571987, nssv2571990, nssv2571995
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNBPF7
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945590
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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