A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060278



Internal ID19149497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46130778..46211213hg38UCSC Ensembl
Innerchr17:44208144..44288579hg19UCSC Ensembl
Innerchr17:41563921..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3880436
hg1980436
hg1880436
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3213n100
Supporting Variantsnssv3549900, nssv3549897, nssv3549895, nssv3549891, nssv3549894, nssv3549898, nssv3720916, nssv3549892, nssv3720920, nssv3720917, nssv3720921, nssv3720918, nssv3720919, nssv3549893, nssv3549896, nssv3549899, nssv3720923, nssv3720922
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)nsv1060278
Frequency
Sample Size11257
Observed Gain2
Observed Loss16
Observed Complex0
Frequencyn/a


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