A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946430



Internal ID18246594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157527381..157527881hg38UCSC Ensembl
Innerchr1:157497171..157497671hg19UCSC Ensembl
Innerchr1:155763795..155764295hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1803113, nssv1803116, nssv1803117, nssv1803112, nssv1803119, nssv1803114, nssv1803111, nssv1803115, nssv1803118, nssv1803120
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFCRL5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946430
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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