A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3566100



Internal ID18517695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53482155..54710351hg38UCSC Ensembl
Innerchr17:51559516..52787712hg19UCSC Ensembl
Innerchr17:48914515..50142711hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381228197
hg191228197
hg181228197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067551
Supporting Variants
Samples
Known GenesKIF2B, MIR548AJ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3566100
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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