A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000255



Internal ID16946521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:16753287..16808486hg38UCSC Ensembl
Outerchr17:16656601..16711800hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3855200
hg1955200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953837
Supporting Variants
SamplesBILGI_BIOE
Known GenesCCDC144A, FAM106CP, USP32P1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000255
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer