A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057842



Internal ID18800373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46120237..46203331hg38UCSC Ensembl
Innerchr17:44197603..44280697hg19UCSC Ensembl
Innerchr17:41553381..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3883095
hg1983095
hg1883094
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3203n100
Supporting Variantsnssv3549815, nssv3549816, nssv3720644
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057842
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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