A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998750



Internal ID16945016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45231034..45277033hg38UCSC Ensembl
Outerchr17:43308401..43354400hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3846000
hg1946000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953904
Supporting Variants
SamplesBILGI_BIOE
Known GenesFMNL1, MAP3K14, MAP3K14-AS1, SPATA32
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998750
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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