A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000277



Internal ID17293229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21419489..21450588hg38UCSC Ensembl
Outerchr17:21322801..21353900hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3831100
hg1931100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953857
Supporting Variants
SamplesBILGI_BIOE
Known GenesKCNJ12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000277
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