A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061258



Internal ID19150477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46156410..46202822hg38UCSC Ensembl
Innerchr17:44233776..44280188hg19UCSC Ensembl
Innerchr17:41589553..41635965hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3846413
hg1946413
hg1846413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3229n100
Supporting Variantsnssv3557297
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)nsv1061258
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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