A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058597



Internal ID18801128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46202822hg38UCSC Ensembl
Innerchr17:44165803..44280188hg19UCSC Ensembl
Innerchr17:41521621..41635965hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38114386
hg19114386
hg18114345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3720316
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)nsv1058597
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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