A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3005151



Internal ID16951417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:184845593..184851642hg38UCSC Ensembl
Outerchr1:184814727..184820776hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386050
hg196050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958155
Supporting Variants
SamplesBILGI_BIOE
Known GenesFAM129A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3005151
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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