A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957531



Internal ID17306404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227294549..227294886hg38UCSC Ensembl
Outerchr1:227482250..227482587hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3005190
SamplesBILGI_BIOE
Known GenesCDC42BPA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957531
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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