A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872462



Internal ID16166418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46178930..46685223hg38UCSC Ensembl
Innerchr17:44256296..44762589hg19UCSC Ensembl
Innerchr17:41612073..42117769hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38506294
hg19506294
hg18505697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575208
Supporting Variants
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872462
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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