A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998756



Internal ID17291708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46087835..46224534hg38UCSC Ensembl
Outerchr17:44165201..44301900hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38136700
hg19136700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953910
Supporting Variants
SamplesBILGI_BIOE
Known GenesKANSL1, KANSL1-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998756
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