A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057045



Internal ID19146264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080109..46286792hg38UCSC Ensembl
Innerchr17:44157475..44364158hg19UCSC Ensembl
Innerchr17:41513294..41719935hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38206684
hg19206684
hg18206642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3181n100
Supporting Variantsnssv3719475, nssv3545202, nssv3719469, nssv3719473, nssv3545206, nssv3719465, nssv3719470, nssv3719460, nssv3545214, nssv3719479, nssv3719471, nssv3545205, nssv3545211, nssv3545199, nssv3545210, nssv3545215, nssv3545209, nssv3719474, nssv3545208, nssv3545201, nssv3545203, nssv3545204, nssv3719464, nssv3545207, nssv3719461, nssv3719472, nssv3719467, nssv3545197, nssv3545198, nssv3545212, nssv3719468, nssv3719476, nssv3719463, nssv3545196, nssv3719462, nssv3545213, nssv3719477, nssv3545200, nssv3719478, nssv3719466
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057045
Frequency
Sample Size11257
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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