A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057014



Internal ID18799545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46202822hg38UCSC Ensembl
Innerchr17:44219555..44280188hg19UCSC Ensembl
Innerchr17:41575332..41635965hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3860634
hg1960634
hg1860634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3216n100
Supporting Variantsnssv3556696
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)nsv1057014
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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