A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000307



Internal ID17293259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228092800..228112199hg38UCSC Ensembl
Outerchr1:228280501..228299900hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3819400
hg1919400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952136
Supporting Variants
SamplesBILGI_BIOE
Known GenesARF1, C1orf35, MIR3620, MRPL55
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000307
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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