A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064847



Internal ID19154066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46211213hg38UCSC Ensembl
Innerchr17:44208674..44288579hg19UCSC Ensembl
Innerchr17:41564451..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3879906
hg1979906
hg1879906
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3213n100
Supporting Variantsnssv3720993, nssv3549963, nssv3549961, nssv3720992, nssv3549962
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)nsv1064847
Frequency
Sample Size11257
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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