A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060792



Internal ID18803323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46188656..46331296hg38UCSC Ensembl
Innerchr17:44266022..44408662hg19UCSC Ensembl
Innerchr17:41621799..41764423hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38142641
hg19142641
hg18142625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3232n100
Supporting Variantsnssv3725357
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060792
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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