A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686898



Internal ID15076864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46032108..46272724hg38UCSC Ensembl
Innerchr17:44109474..44350090hg19UCSC Ensembl
Innerchr17:41465321..41705867hg18UCSC Ensembl
Innerchr17:41465321..41705867hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38240617
hg19240617
hg18240547
hg17240547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516807
Supporting Variants
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686898
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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