A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952373



Internal ID16954560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78214820..78283319hg38UCSC Ensembl
Outerchr17:76210901..76279400hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3868500
hg1968500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998806
SamplesBILGI_BIOE
Known GenesBIRC5, LOC100996291, TMEM235
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952373
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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