A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000242



Internal ID16946508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8061683..8088382hg38UCSC Ensembl
Outerchr17:7965001..7991700hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3826700
hg1926700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953825
Supporting Variants
SamplesBILGI_BIOE
Known GenesALOX12B, MIR4314
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000242
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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