A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998801



Internal ID16945067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75487920..75522019hg38UCSC Ensembl
Outerchr17:73484001..73518100hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3834100
hg1934100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952368
Supporting Variants
SamplesBILGI_BIOE
Known GenesCASKIN2, KIAA0195, MIR6785, TSEN54
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998801
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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