A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953850



Internal ID17302724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20864488..20866587hg38UCSC Ensembl
Outerchr17:20767801..20769900hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000269
SamplesBILGI_BIOE
Known GenesCCDC144NL
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953850
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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