A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998768



Internal ID16945034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48541339..48561538hg38UCSC Ensembl
Outerchr17:46618701..46638900hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3820200
hg1920200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953922
Supporting Variants
SamplesBILGI_BIOE
Known GenesHOXB2, HOXB3, HOXB-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998768
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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