A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056664



Internal ID19145883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136346..46275506hg38UCSC Ensembl
Innerchr17:44213712..44352872hg19UCSC Ensembl
Innerchr17:41569489..41708649hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38139161
hg19139161
hg18139161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3208n100
Supporting Variantsnssv3550153
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056664
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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