A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952383



Internal ID17301257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80312301..80316100hg38UCSC Ensembl
Outerchr17:78286101..78289900hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998816
SamplesBILGI_BIOE
Known GenesRNF213
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952383
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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