A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998745



Internal ID16945011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42665283..42692482hg38UCSC Ensembl
Outerchr17:40817301..40844500hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3827200
hg1927200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953899
Supporting Variants
SamplesBILGI_BIOE
Known GenesCCR10, CNTNAP1, PLEKHH3, TUBG2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998745
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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