A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001516



Internal ID17294468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:55916236..55919386hg38UCSC Ensembl
Outerchr17:53993597..53996747hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383151
hg193151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955401
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001516
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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