A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063274



Internal ID19152493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46317042hg38UCSC Ensembl
Innerchr17:44165803..44394408hg19UCSC Ensembl
Innerchr17:41521621..41750183hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38228606
hg19228606
hg18228563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3184n100
Supporting Variantsnssv3548330, nssv3720479, nssv3548346, nssv3548328, nssv3548333, nssv3548347, nssv3548342, nssv3548338, nssv3548331, nssv3548326, nssv3548340, nssv3548332, nssv3548335, nssv3548337, nssv3548334, nssv3720480, nssv3548343, nssv3548329, nssv3720478, nssv3548336, nssv3720481, nssv3548349, nssv3548344, nssv3548348, nssv3548345, nssv3548327, nssv3548341, nssv3548339
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)nsv1063274
Frequency
Sample Size11257
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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